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).


76 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
86564564 Exon 1 Missense c.296C>T p.Ala99Val Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
 
86564743 Exon 1 Deletion c.475_476del p.Leu159fs Pathogenic CM, AVM, PKWS Eerola (2003)
ARUP Laboratories
86564780 Exon 1 Deletion c.512del p.Ile171fs Pathogenic CM, AVM Eerola (2003)
86627238 Exon 2 Deletion c.613_617del p.Leu205fs Pathogenic CM Revencu (2008)
ARUP Laboratories
86627281 Exon 2 Nonsense c.656C>G p.Ser219* Pathogenic CM Revencu (2008)  
86628365 Exon 3 Indel c.734_737delinsAAA p.Arg245fs Pathogenic CM Wijn (2012)  
86628437 Exon 3 Deletion c.806_810del p.Leu269fs Pathogenic CM, PKWS Revencu (2008)
86628462 Intron 3 Splice Site c.828+3A>T Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
 
86629072 Intron 3 Intronic c.829-12del Benign ARUP Laboratories  
86629075 Intron 3 Splice Site c.829-9G>A Pending classification CM Hershkovitz (2008)
86629108 Exon 4 Nonsense c.853C>T p.Arg285* Pathogenic CM Hershkovitz (2008)
ARUP Laboratories
86633842 Exon 5 Duplication c.951dupG p.Met318fs Pathogenic CM Revencu (2008)  
86633848 Exon 5 Nonsense c.957G>A p.Trp319* Pathogenic CM, PKWS Revencu (2008)
86633909 Intron 5 Splice Site c.1017+1G>T Pathogenic CM, PKWS Revencu (2008)
86633973 Intron 5 Intronic c.1017+65G>A Benign ARUP Laboratories
86645120 Exon 8 Nonsense c.1192C>T p.Arg398* Pathogenic CM, AVM/AVF Revencu (2008)
86645136 Exon 8 Duplication c.1208dupC p.Thr404fs Pathogenic CM, AVM/AVF Revencu (2008)  
86648997 Exon 9 Missense c.1277A>G p.Tyr426Cys Pending classification CM Revencu (2008)
86648999 Exon 9 Nonsense c.1279C>T p.Arg427* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
86649030 Exon 9 Missense c.1310T>G p.Leu437Arg VUS CM Wooderchak-Donahue (2012)
ARUP Laboratories
 
86649057 Intron 9 Splice Site c.1332+5G>A Pending classification CM Revencu (2008)  
86658371 Exon 10 Nonsense c.1336C>T p.Gln446* Pathogenic CM, PKWS, AVM Eerola (2003)
Revencu (2008)
86658378 Exon 10 Indel c.1343_1346delinsCATG p.Gln448fs Pathogenic CM Hershkovitz (2008b)
86658385 Exon 10 Insertion c.1350_1351insT p.Asn451* Pathogenic CM, PKWS Revencu (2008)  
86658397 Exon 10 Insertion c.1362_1363insTCAGT p.Asp455fs Pathogenic CM Revencu (2008)  
86658421 Exon 10 Insertion c.1386_1387insCT p.Ile463fs Pathogenic CM, AVM Thiex (2010)  
86658437 Exon 10 Deletion c.1402_1403del p.Lys468fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
86658489 Intron 10 Splice Site c.1453+1del Pathogenic CM, AVF Thiex (2010)  
86659191 Exon 11 Duplication c.1480dup p.Tyr494fs Pathogenic CM, PKWS Revencu (2008)  
86659201 Exon 11 Nonsense c.1490T>G p.Leu497* Pathogenic CM, AVM/AVF Revencu (2008)  
86659204 Exon 11 Deletion c.1493_1494del p.Glu498fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
86659283 Exon 11 Duplication c.1572_1575dup p.Ser526fs Pathogenic CM, PKWS Revencu (2008)
86659290 Exon 11 Deletion c.1579_1582delGTCT p.Val527fs Pathogenic CM, AVM Eerola (2003)
ARUP Laboratories
86665625 Intron 11 Splice Site c.1611-7delT Benign ARUP Laboratories  
86665636 Exon 12 Duplication c.1616dup p.Asn539fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
86665638 Exon 12 Missense c.1619G>A p.Cys540Tyr Pending classification CM, AVF Eerola (2003)
86665655 Exon 12 Nonsense c.1636C>T p.Gln546* Pathogenic CM, AVM/AVF Revencu (2008)  
86665685 Exon 12 Splice Site c.1666_1698+15del Pathogenic CM, AVM Thiex (2010)  
86665702 Exon 12 Duplication c.1682_1683dup p.Pro562fs Pathogenic CM, AVM/AVF Revencu (2008)
86665720 Intron 12 Splice Site c.1698+3_1698+4insT Pending classification CM, PKWS Revencu (2008)
86667953 Exon 13 Nonsense c.1717C>T p.Gln573* Pathogenic CM, AVM Thiex (2010)  
86668007 Exon 13 Duplication c.1771dup p.Arg591fs Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
86670073 Exon 14 Nonsense c.1870C>T p.Gln624* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
 
86672224 Exon 16 Nonsense c.2026C>T p.Gln676* Pathogenic CM Revencu (2008)
ARUP Laboratories
 
86672282 Exon 16 Missense c.2084A>T p.His695Leu VUS CM Wooderchak-Donahue (2012)
ARUP Laboratories
 
86672323 Exon 16 Nonsense c.2125C>T p.Arg709* Pathogenic CM, AVM/AVF, PKWS Revencu (2008)
86672383 Intron 16 Splice Site c.2184+1del Pathogenic CM, PKWS Revencu (2008)
86672697 Intron 16 Splice Site c.2185-1G>A Pathogenic CM Revencu (2008)  
86672738 Exon 17 Nonsense c.2225C>A p.Ser742* Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
 
86672752 Exon 17 Nonsense c.2239C>T p.Gln747* Pathogenic CM Wooderchak-Donahue (2012)
ARUP Laboratories
 
86672765 Exon 17 Duplication c.2252_2255dup p.Ala753fs Pathogenic CM Hershkovitz (2008a)
86672801 Exon 17 Missense c.2288A>T p.Glu763Val Pending classification CM, AVM/AVF Revencu (2008)
86672842 Exon 17 Nonsense c.2329G>T p.Glu777* Pathogenic CM, AVF Thiex (2010)  
86672849 Exon 17 Deletion c.2336_2337del p.Ser779fs Pathogenic CM, AVM Eerola (2003)
86672854 Exon 17 Nonsense c.2341G>T p.Glu781* Pathogenic CM, AVM/AVF Revencu (2008)
86674233 Exon 18 Nonsense c.2365C>T p.Arg789* Pathogenic CM, AVM/AVF Revencu (2008)
ARUP Laboratories
86674290 Exon 18 Nonsense c.2422C>T p.Gln808* Pathogenic CM, PKWS Revencu (2008)  
86674318 Exon 18 Deletion c.2450_2451del p.Ser817fs Pathogenic CM, AVM/AVF Revencu (2008)  
86675450 Intron 18 Intronic c.2488-102G>A Benign ARUP Laboratories  
86675511 Intron 18 Intronic c.2488-41A>C Benign ARUP Laboratories  
86675550 Intron 18 Splice Site c.2488-2A>G Pathogenic CM Revencu (2008)  
86675551 Intron 18 Splice Site c.2488-1_2490del Pathogenic CM, AVM/AVF Revencu (2008)
86675578 Exon 19 Insertion c.2514_2515insA p.Glu839fs Pathogenic CM Revencu (2008)  
86675596 Exon 19 Deletion c.2532_2536del p.Leu845fs Pathogenic CM, AVM/AVF Revencu (2008)
86675643 Exon 19 Deletion c.2579_2582del p.Phe860fs Pathogenic CM, AVM/AVF Revencu (2008)
86675668 Intron 19 Splice Site c.2603+1G>A Pathogenic CM Revencu (2008)
ARUP Laboratories
86675669 Intron 19 Splice Site c.2603+2dup Pathogenic CM Revencu (2008)
ARUP Laboratories
86675671 Intron 19 Splice Site c.2603+4dup Pending classification CM Revencu (2008)
86675672 Intron 19 Splice Site c.2603+5G>T Pending classification CM, PKWS Revencu (2008)
86676204 Intron 19 Intronic c.2604-122T>C Benign ARUP Laboratories  
86679516 Intron 20 Intronic c.2691-14del Benign ARUP Laboratories
86685312 Exon 24 Nonsense c.3028C>T p.Arg1010* Pathogenic CM Revencu (2008)
ARUP Laboratories
86685336 Exon 24 Deletion c.3052delG p.Ala1018fs Pathogenic CM Revencu (2008)  
86685365 Intron 24 Intronic c.3060+21A>G Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories
 
86686623 Exon 25 Silent c.3067T>C p.Leu1023Leu Pending classification Haga (2002)
86686797 3'UTR Regulatory c.*97A>G Benign CM Wooderchak-Donahue (2012)
ARUP Laboratories