RASA1 Database

  • Reference sequences were NC_000005.9 and NM_002890.1. cDNA number 1 is the "A" of the start codon.
  • Frameshift is documented by the original amino acid followed by the codon number and "fs" (ex. Leu159 fs).
  • Click any Column Header to sort the display. Mouse over Comments icon for additional details.
  • "Live Search" any term in the search box, such as "exon" , "missense", "benign" , etc...
  • Disease abbreviations - Arteriovenous Fistula (AVF), Arteriovenous Malformation (AVM), Capillary Malformation (CM), and Parkes-Weber syndrome (PKWS).


184 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
Exon 1 (5'UTR) Large deletion 5’UTR-EX1del Pathogenic AVM Wooderchak-Donahue (2018)
Exon 1 (5'UTR) Large deletion 5’UTR-EX1del Pathogenic CM Wooderchak-Donahue (2018)
Exon 1 (5'UTR) Regulatory c.-106_-105delinsTT Suspected benign Wooderchak-Donahue (2018)
Exon 1 Missense c.208G>C p.Glu70Gln VUS Suspected HHT Wooderchak-Donahue (2018)
Exon 1 Missense c.209A>G p.Glu70Gly Benign Wooderchak-Donahue (2018)
Exon 1 Deletion c.261_262del p.Gly89Argfs*22 Pathogenic Suspected HHT Wooderchak-Donahue (2018)
Exon 1 Deletion c.261del p.Gly89Glufs*7 Pathogenic CM, AVM Saliou (2017)
Exon 1 Missense c.296C>T p.Ala99Val Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 1 Missense c.346C>G p.Leu116Val Pending classification Maruani (2017)
Exon 1 Silent c.360C>A p.Pro120Pro Suspected benign Wooderchak-Donahue (2018)
Exon 1 Nonsense c.365C>A p.Ser122* Pathogenic CM Revencu (2013)
Exon 1 Deletion c.383_384del p.Leu128Argfs*29 Pathogenic CM, AVM Saliou (2017)
Exon 1 Duplication c.409dup p.Leu137Profs*21 Pathogenic CM, AVM Revencu (2013)
Exon 1 Indel c.442_443delinsT p.Ala148Trpfs*26 Pathogenic CM Revencu (2013)
Exon 1 Nonsense c.463G>T p.Glu155* Pathogenic CM Revencu (2013)
Exon 1 Missense c.467G>T p.Gly156Val VUS AVM Wooderchak-Donahue (2018)
Exon 1 Deletion c.475_476del p.Leu159fs Pathogenic CM, AVM, PKWS Eerola (2003)
ARUP Laboratories
Exon 1 Nonsense c.492C>G p.Tyr164* Pathogenic CM, AVM Revencu (2013)
Exon 1 Deletion c.512del p.Ile171fs Pathogenic CM, AVM Eerola (2003)
Intron 1 Splice Site c.539+1G>A Pathogenic CM Maruani (2017)
Intron 1 Intronic c.540-27G>A Benign Wooderchak-Donahue (2018)
Exon 2-9 Large deletion EX2-9del Pathogenic CM Wooderchak-Donahue (2018)
Exon 2 Deletion c.556_562del p.Leu186Glufs*3 Pathogenic CM, AVF Saliou (2017)
Exon 2 Duplication c.611dup p.Tyr204* Pathogenic CM Wooderchak-Donahue (2018)
Exon 2 Deletion c.613_617del p.Leu205fs Pathogenic CM Revencu (2008)
ARUP Laboratories
Exon 2 Nonsense c.656C>G p.Ser219* Pathogenic CM Revencu (2008)
Exon 3 Indel c.734_737delinsAAA p.Arg245fs Pathogenic CM Wijn (2012)
Exon 3 Deletion c.806_810del p.Leu269fs Pathogenic CM, PKWS Revencu (2008)
Intron 3 Splice Site c.828+3A>T Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Intron 3 Splice Site c.828+3A>T Pathogenic CM Wooderchak-Donahue (2018)
Intron 3 Intronic c.829-12del Benign ARUP Laboratories
Intron 3 Splice Site c.829-9G>A Pending classification CM Hershkovitz (2008)
Intron 3 Splice Site c.829-1G>A Pathogenic CM, AVM Revencu (2013)
Exon 4 Nonsense c.853C>T p.Arg285* Pathogenic CM Hershkovitz (2008)
ARUP Laboratories
Intron 4 Splice Site c.899+1G>T Pathogenic CM, AVM Revencu (2013)
Exon 5 Duplication c.951dupG p.Met318fs Pathogenic CM Revencu (2008)
Exon 5 Nonsense c.957G>A p.Trp319* Pathogenic CM, PKWS Revencu (2008)
Intron 5 Splice Site c.1017+1G>T Pathogenic CM, PKWS Revencu (2008)
Intron 5 Intronic c.1017+65G>A Benign ARUP Laboratories
Exon 7 Nonsense c.1063A>T p.Lys355* Pathogenic CM, AVM Lapinski (2018)
Intron 7 Splice Site c.1102+2T>C Pathogenic CM, AVM Saliou (2017)
Intron 7 Intronic c.1102+10T>C Suspected benign Wooderchak-Donahue (2018)
Intron 7 Splice Site c.1103-2A>G Pathogenic CM, T Wooderchak-Donahue (2018)
Exon 8 Nonsense c.1192C>T p.Arg398* Pathogenic CM, AVM/AVF Revencu (2008)
Exon 8 Duplication c.1208dupC p.Thr404fs Pathogenic CM, AVM/AVF Revencu (2008)
Exon 8 Deletion c.1220_1223del p.Asn407Serfs*3 Pathogenic CM Revencu (2013)
Wooderchak-Donahue (2018)
Exon 8 Nonsense c.1248T>G p.Tyr416* Pathogenic CM Macmurdo (2016)
Exon 9 Insertion c.1268_1269dup p.Asp424* Pathogenic CM, AVM Lapinski (2018)
Exon 9 Missense c.1277A>G p.Tyr426Cys Pending classification CM Revencu (2008)
Exon 9 Nonsense c.1279C>T p.Arg427* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Exon 9 Deletion c.1290_1291del p.Gln430Hisfs*3 Pathogenic CM, PKWS Revencu (2013)
Exon 9 Missense c.1310T>G p.Leu437Arg VUS CM Wooderchak-Donahue (2012)
ARUP Laboratories
Intron 9 Splice Site c.1332+5G>A Pending classification CM Revencu (2008)
Intron 9 Splice Site c.1332+6T>G VUS Wooderchak-Donahue (2018)
Exon 10 Nonsense c.1336C>T p.Gln446* Pathogenic CM, PKWS, AVM Eerola (2003)
Revencu (2008)
Exon 10 Nonsense c.1342C>T p.Gln448* Pathogenic CM, AVM Revencu (2013)
Exon 10 Indel c.1343_1346delinsCATG p.Gln448fs Pathogenic CM Hershkovitz (2008b)
Exon 10 Insertion c.1350_1351insT p.Asn451* Pathogenic CM, PKWS Revencu (2008)
Exon 10 Missense c.1352A>G p.Asn451Ser Pending classification Maruani (2017)
Exon 10 Insertion c.1362_1363insTCAGT p.Asp455fs Pathogenic CM Revencu (2008)
Exon 10 Deletion c.1384_1388del p.Thr462Profs*3 Pathogenic CM Revencu (2013)
Exon 10 Insertion c.1386_1387insCT p.Ile463fs Pathogenic CM, AVM Thiex (2010)
Exon 10 Deletion c.1402_1403del p.Lys468fs Pathogenic CM, AVM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 10 Nonsense c.1440T>G p.Tyr480* Pathogenic CM Revencu (2013)
Intron 10 Splice Site c.1453+1del Pathogenic CM, AVF Thiex (2010)
Intron 10 Intronic c.1454-7delT Benign Wooderchak-Donahue (2018)
Exon 11 Deletion c.1455del p.Gly487Glufs*11 Pathogenic CM, AVM Saliou (2017)
Exon 11 Duplication c.1480dup p.Tyr494fs Pathogenic CM, PKWS Revencu (2008)
Exon 11 Nonsense c.1490T>G p.Leu497* Pathogenic CM, AVM/AVF Revencu (2008)
Exon 11 Deletion c.1493_1494del p.Glu498fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 11 Duplication c.1495_1496dup p.Ser500Valfs*21 Pathogenic CM Revencu (2013)
Exon 11 Nonsense c.1507C>T p.Gln503* Pathogenic CM, AVM Boyden (2012)
Exon 11 Deletion c.1509del p.Gln503Hisfs*17 Pathogenic CM, AVM Saliou (2017)
Exon 11 Insertion c.1513_1514insAA p.Ile505Lysfs*16 Pathogenic CM, AVM Wooderchak-Donahue (2018)
Exon 11 Insertion c.1517_1518dup p.Phe507Ilefs*14 Pathogenic CM Wooderchak-Donahue (2018)
Exon 11 Deletion c.1517_1520del p.Tyr506Leufs*13 Pathogenic CM, PKWS Revencu (2013)
Exon 11 Nonsense c.1534C>T p.Arg512* Pathogenic CM, AVM Revencu (2013)
Wooderchak-Donahue (2018)
Exon 11 Deletion c.1567_1568del p.Ser523Cysfs*9 Pathogenic AVF Saliou (2017)
Exon 11 Duplication c.1572_1575dup p.Ser526fs Pathogenic CM, PKWS Revencu (2008)
Exon 11 Deletion c.1579_1582delGTCT p.Val527fs Pathogenic CM, AVM Eerola (2003)
ARUP Laboratories
Exon 11 Missense c.1583A>G p.Tyr528Cys Benign Wooderchak-Donahue (2018)
Exon 11 Missense c.1589T>A p.Val530Asp Pending classification CM, AVM Revencu (2013)
Exon 11 Duplication c.1594dup p.Asp532Glyfs*2 Pathogenic AVM Saliou (2017)
Exon 11 Deletion c.1596 1597del p.Asp532Glufs*17 Pathogenic CM, AVM Revencu (2013)
Intron 11 Splice Site c.1611-7delT Benign ARUP Laboratories
Exon 12 Duplication c.1616dup p.Asn539fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 12 Missense c.1619G>A p.Cys540Tyr Pending classification CM, AVF Eerola (2003)
Exon 12 Nonsense c.1636C>T p.Gln546* Pathogenic CM, AVM/AVF Revencu (2008)
Exon 12 Missense c.1649A>T p.Glu550Val VUS CM Wooderchak-Donahue (2018)
Exon 12 Splice Site c.1666_1698+15del Pathogenic CM, AVM Thiex (2010)
Exon 12 Duplication c.1682_1683dup p.Pro562fs Pathogenic CM, AVM/AVF Revencu (2008)
Intron 12 Splice Site c.1698+1G>T Pathogenic CM Revencu (2013)
Intron 12 Splice Site c.1698+2dup Pathogenic CM, AVM Wooderchak-Donahue (2018)
Overcash (2015)
Intron 12 Splice Site c.1698+3_1698+4insT Pending classification CM, PKWS Revencu (2008)
Exon 13 Nonsense c.1703G>A p.Trp568* Pathogenic CM, AVM Lapinski (2018)
Exon 13 Nonsense c.1717C>T p.Gln573* Pathogenic CM, AVM Thiex (2010)
Exon 13 Duplication c.1726dup p.Cys576Leufs*7 Pathogenic CM, AVM Revencu (2013)
Exon 13 Duplication c.1771dup p.Arg591fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
Intron 13 Intronic c.1777-113G>A Benign Wooderchak-Donahue (2018)
Exon 14 Missense c.1834A>G p.Thr612Ala VUS Suspected HHT Wooderchak-Donahue (2018)
Exon 14 Nonsense c.1870C>T p.Gln624* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Exon 14 Missense c.1877C>A p.Ala626Glu Pending classification CM Revencu (2013)
Exon 15 Deletion c.1984_1988del p.Thr662Glufs*6 Pathogenic CM Wooderchak-Donahue (2018)
Exon 15 Deletion c.1989 1992del p.Lys664Alafs*13 Pathogenic CM, AVM Revencu (2013)
Intron 15 Splice Site c.2011+1G>C Pathogenic CM Wooderchak-Donahue (2018)
Intron 15 Intronic c.2011+56A>G Benign Wooderchak-Donahue (2018)
Exon 16-20 Large deletion EX16-20del Pathogenic CM Wooderchak-Donahue (2018)
Exon 16 Nonsense c.2026C>T p.Gln676* Pathogenic CM Revencu (2008)
ARUP Laboratories
Exon 16 Nonsense c.2035C>T p.Arg679* Pathogenic CM, AVM, PKWS Revencu (2013)
Wooderchak-Donahue (2018)
Exon 16 Nonsense c.2066G>A p.Trp689* Pathogenic CM Wooderchak-Donahue (2018)
Exon 16 Missense c.2084A>T p.His695Leu VUS CM, AVM/AVF Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 16 Missense c.2119C>T p.Arg707Cys Pending classification CM, AVM Kwong (2015)
Exon 16 Nonsense c.2125C>T p.Arg709* Pathogenic CM, AVM/AVF, PKWS Revencu (2008)
Exon 16 Nonsense c.2131C>T p.Arg711* Pathogenic CM, AVF Revencu (2013)
Wooderchak-Donahue (2018)
Exon 16 Indel c.2155_2156delinsTA p.Pro719* Pathogenic Wooderchak-Donahue (2018)
Intron 16 Splice Site c.2184+1del Pathogenic CM, PKWS Revencu (2008)
Intron 16 Splice Site c.2185-2A>C Pathogenic CM Wooderchak-Donahue (2018)
Intron 16 Splice Site c.2185-1G>A Pathogenic CM Revencu (2008)
Exon 17 Missense c.2209G>A p.Val737Ile VUS CM Wooderchak-Donahue (2018)
Exon 17 Nonsense c.2225C>A p.Ser742* Pathogenic CM, AVM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 17 Nonsense c.2239C>T p.Gln747* Pathogenic CM, AVM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 17 Nonsense c.2245C>T p.Arg749* Pathogenic CM Revencu (2013)
Wooderchak-Donahue (2018)
Exon 17 Duplication c.2252_2255dup p.Ala753fs Pathogenic CM Hershkovitz (2008)
Exon 17 Nonsense c.2269del p.Leu757* Pathogenic AVM/AVF, PKWS Wooderchak-Donahue (2018)
Exon 17 Missense c.2288A>T p.Glu763Val Pending classification CM, AVM/AVF Revencu (2008)
Exon 17 Silent c.2307G>A p.Leu769Leu Suspected benign Wooderchak-Donahue (2018)
Exon 17 Duplication c.2310dup p.Cys771Metfs*5 Pathogenic CM Wooderchak-Donahue (2018)
Exon 17 Nonsense c.2329G>T p.Glu777* Pathogenic CM, AVF Thiex (2010)
Exon 17 Deletion c.2336_2337del p.Ser779fs Pathogenic CM, AVM Eerola (2003)
Exon 17 Nonsense c.2341G>T p.Glu781* Pathogenic CM, AVM/AVF Revencu (2008)
Intron 17 Splice Site c.2344+1G>A Pathogenic CM Wooderchak-Donahue (2018)
Intron 17 Splice Site c.2344+1G>C Pathogenic CM, AVM Revencu (2013)
Exon 18 Nonsense c.2365C>T p.Arg789* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
Exon 18 Nonsense c.2422C>T p.Gln808* Pathogenic CM, PKWS Revencu (2008)
Exon 18 Nonsense c.2441del p.Leu814* Pathogenic CM, AVM Palmyre (2017)
Saliou (2017)
Exon 18 Deletion c.2450_2451del p.Ser817fs Pathogenic CM, AVM/AVF Revencu (2008)
Exon 18 Duplication c.2451dup p.Ile818Tyrfs*12 Pathogenic CM Wooderchak-Donahue (2018)
Exon 18 Indel c.2457_2460delinsT p.Leu819_Lys820delinsPhe Pathogenic CM, AVM Revencu (2013)
Exon 18 Duplication c.2467dup p.Glu823Glyfs*7 Pathogenic CM Whitaker (2016)
Intron 18 Intronic c.2488-102G>A Benign ARUP Laboratories
Intron 18 Intronic c.2488-41A>C Benign ARUP Laboratories
Intron 18 Splice Site c.2488-2A>G Pathogenic CM Revencu (2008)
Intron 18 Splice Site c.2488-1_2490del Pathogenic CM, AVM/AVF Revencu (2008)
Exon 19 Deletion c.2500_2501del p.Lys834Valfs*5 Pathogenic CM Revencu (2013)
Exon 19 Duplication c.2513dup p.Asn838Lysfs*2 Pathogenic AVM Saliou (2017)
Exon 19 Insertion c.2514_2515insA p.Glu839fs Pathogenic CM Revencu (2008)
Exon 19 Deletion c.2532_2536del p.Leu845fs Pathogenic CM, AVM/AVF Revencu (2008)
Exon 19 Deletion c.2579_2582del p.Phe860fs Pathogenic CM, AVM/AVF Revencu (2008)
Exon 19 Duplication c.2598dup p.Pro867Serfs*18 Pathogenic CM Wooderchak-Donahue (2018)
Intron 19 Splice Site c.2603+1G>A Pathogenic CM, AVM Revencu (2008)
ARUP Laboratories
Intron 19 Splice Site c.2603+2dup Pathogenic CM Revencu (2008)
ARUP Laboratories
Intron 19 Splice Site c.2603+4dup Pending classification CM Revencu (2008)
Intron 19 Splice Site c.2603+4del Pathogenic CM, AVM Wooderchak-Donahue (2018)
Intron 19 Splice Site c.2603+5G>T Pending classification CM, PKWS Revencu (2008)
Intron 19 Splice Site c.2603+5G>C Pathogenic CM Buhl (2012)
Intron 19 Intronic c.2603+185T>C Benign Wooderchak-Donahue (2018)
Intron 19 Intronic c.2604-122T>C Benign ARUP Laboratories
Intron 19 Splice Site c.2604-2A>C Pathogenic CM Wooderchak-Donahue (2018)
Intron 19 Splice Site c.2604-1_2605del Pathogenic CM Wooderchak-Donahue (2018)
Exon 20 Splice Site c.2604G>T p.Pro868Pro Pathogenic CM, AVM/AVF Wooderchak-Donahue (2018)
Exon 20 Silent c.2608T>C p.Leu870Leu Benign Wooderchak-Donahue (2018)
Exon 20 Nonsense c.2632C>T p.Gln878* Pathogenic CM, PKWS Revencu (2013)
Intron 20 Intronic c.2691-14del Benign ARUP Laboratories
Intron 20 Intronic c.2691-11C>T Suspected benign Wooderchak-Donahue (2018)
Exon 21-25 Large deletion EX21-25del Pathogenic AVM Wooderchak-Donahue (2018)
Exon 21 Deletion c.2698_2701del p.Val900Phefs*10 Pathogenic CM, AVF Wooderchak-Donahue (2018)
Exon 21 Deletion c.2703del p.Leu902Phefs*9 Pathogenic CM, AVM Saliou (2017)
Exon 21 Nonsense c.2707C>T p.Arg903* Pathogenic CM, AVM Revencu (2013)
Wooderchak-Donahue (2018)
Intron 22 Intronic c.2848-26T>C Benign Wooderchak-Donahue (2018)
Intron 23 Splice Site c.2925+1G>T Pathogenic Wooderchak-Donahue (2018)
Intron 23 Splice Site c.2925+1del Pathogenic CM Wooderchak-Donahue (2018)
Intron 23 Splice Site c.2925+5G>C Pathogenic CM, AVM Revencu (2013)
Exon 24 Deletion c.2927del p.Asn976Metfs*20 Pathogenic CM Durrington (2013)
Exon 24 Deletion c.2977del p.Arg993Valfs*3 Pathogenic CM, AVM, PKWS Revencu (2013)
Exon 24 Deletion c.3024del p.Glu1008Aspfs*16 Pathogenic CM, AVM Revencu (2013)
Exon 24 Nonsense c.3028C>T p.Arg1010* Pathogenic CM, AVM Revencu (2008)
Wooderchak-Donahue (2018)
Exon 24 Deletion c.3038_3054del p.Ser1013Thrfs*27 Pathogenic CM Revencu (2013)
Exon 24 Nonsense c.3043G>T p.Glu1015* Pathogenic Suspected HHT Hernandez (2015)
Exon 24 Deletion c.3052delG p.Ala1018fs Pathogenic CM Revencu (2008)
Exon 24 Nonsense c.3055C>T p.Gln1019* Pathogenic CM Revencu (2013)
Intron 24 Splice Site c.3060+1dup Pathogenic Suspected HHT Wooderchak-Donahue (2018)
Intron 24 Intronic c.3060+21A>G Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
Exon 25 Silent c.3067T>C p.Leu1023Leu Pending classification Haga (2002)
Exon 25 Deletion c.3109_3112del p.Gln1037Thrfs*63 Pathogenic CM, AVM Revencu (2013)
3'UTR Regulatory c.*97A>G Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories