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).

84 variants found

Genomic Position Location Mutation Type Nucleotide Change Protein Change Classification Phenotype References Comments
86564563 Exon 1 Missense c.296C>T p.Ala99Val Pathogenic CM Wooderchak-Donahue (2012)  
86564742 Exon 1 Deletion c.475_476delCT p.Leu159fs Pathogenic CM, AVM, PKWS Eerola (2003)
86564781 Exon 1 Deletion c.512delT p.Ile171fs Pathogenic CM, AVM Eerola (2003)
86627239 Exon 2 Deletion c.613_617delCTTAT p.Leu205fs Pathogenic CM Revencu (2008)
86627282 Exon 2 Nonsense c.656C>G p.Ser219X Pathogenic CM Revencu (2008)  
86628365 Exon 3 Deletion, Insertion c.734_737delinsAAA p.Arg245fsX8 Pathogenic CM Wijn (2012)  
86628438 Exon 3 Deletion c.806_810delTTTAC p.Leu269fs Pathogenic CM, PKWS Revencu (2008)
86628463 Intron 3 Splice Site c.828+3A>T Pathogenic CM, AVM/AVF Revencu (2008)  
86629024 Intron 3 SNP c.947-60C>T Benign ARUP Laboratories  
86629073 Intron 3 Deletion c.829-12delT Benign ARUP Laboratories  
86629076 Intron 3 Splice Site c.829-9G>GA Pathogenic CM Hershkovitz (2008)
86629109 Exon 4 Nonsense c.853C>CT p.Arg285X Pathogenic CM Hershkovitz (2008)
86633842 Exon 5 Duplication c.951dupG p.Met318fs Pathogenic CM Revencu (2008)  
86633849 Exon 5 Nonsense c.957G>A p.Trp319X Pathogenic CM, PKWS Revencu (2008)
86633910 Intron 5 Splice Site c.1017+1G>T Pathogenic CM, PKWS Revencu (2008)
86633975 Intron 5 SNP c.1017+65G>A Benign ARUP Laboratories
86645121 Exon 8 Nonsense c.1192C>T p.Arg398X Pathogenic CM, AVM/AVF Revencu (2008)
86645137 Exon 8 Duplication c.1208dupC p.Thr404fs Pathogenic CM, AVM/AVF Revencu (2008)  
86645158 Exon 8 SNP c.1229G?A p.K420K Pathogenic SWS Zhou (2011)  
86648998 Exon 9 Missense c.1277A>G p.Tyr426Cys Pathogenic CM Revencu (2008)
86649000 Exon 9 Nonsense c.1279C>T p.Arg427X Pathogenic CM Revencu (2008)
86649000 Exon 9 Nonsense c.1279C>T p.Arg427X Pathogenic CM, AVM/AVF Revencu (2008)  
86649030 Exon 9 Missense c.1310T>G p.Leu437Arg Pathogenic CM Wooderchak-Donahue (2012)  
86649058 Intron 9 Splice Site c.1332+5G>A Pathogenic CM Revencu (2008)  
86658372 Exon 10 Nonsense c.1336C>T p.Gln446X Pathogenic CM, PKWS Revencu (2008)  
86658372 Exon 10 Nonsense c.1336C>T p.Gln446X Pathogenic CM, AVM Eerola (2003)
86658379 Exon 10 Deletion/Insertion c.1343_1346delinsCATG het p.Gln448fs Pathogenic CM Hershkovitz (2008b)
86658385 Exon 10 Nonsense c.1350_1351insT p.Asn451X Pathogenic CM, PKWS Revencu (2008)  
86658398 Exon 10 Insertion c.1362_1363insTCAGT p.Asp455fs Pathogenic CM Revencu (2008)  
86658423 Exon 10 Insertion c.1386_1387insCT p.Ile463LeufsX21 Pathogenic CM, AVM Thiex (2010)  
86658436 Exon 10 Frameshift c.1401_1402delAA p.Thr467fs Pathogenic CM Wooderchak-Donahue (2012)  
86658489 Intron 10 Splice Site c.1453 + 1delG Pathogenic CM, AVF Thiex (2010)  
86659192 Exon 11 Duplication c.1480dupT p.Tyr494fs Pathogenic CM, PKWS Revencu (2008)  
86659201 Exon 11 Nonsense c.1490T>G p.Leu497X Pathogenic CM, AVM/AVF Revencu (2008)  
86659202 Exon 11 Deletion c.1491_1492delAG p.Leu497fs Pathogenic CM Wooderchak-Donahue (2012)  
86659284 Exon 11 Duplication c.1572_1575dup p.Ser526fs Pathogenic CM, PKWS Revencu (2008)
86659291 Exon 11 Deletion c.1579_1582delGTCT p.Val227fs Pathogenic CM, AVM Eerola (2003)
86665624 Intron 11 Deletion c.1611-7delT Benign ARUP Laboratories  
86665635 Exon 12 Duplication c.1617dupA p.Asn539fs Pathogenic CM Wooderchak-Donahue (2012)  
86665637 Exon 12 Missense c.1619G>A p.Cys540Tyr Pathogenic CM, AVF Eerola (2003)
86665655 Exon 12 Nonsense c.1636C>T p.Gln546X Pathogenic CM, AVM/AVF Revencu (2008)  
86665702 Exon 12 Duplication c.1682_1683dup p.Pro562fs Pathogenic CM, AVM/AVF Revencu (2008)
86665721 Intron 12 Insertion, Splice Site c.1698+3_1698+4insT Pathogenic CM, PKWS Revencu (2008)
86665732 Intron 12 Splice Site c.1666_1698 + 15 del Pathogenic CM, AVM Thiex (2010)  
86667953 Exon 13 Nonsense c.1717C>T p.Gln573X Pathogenic CM, AVM Thiex (2010)  
86668007 Exon 13 Insertion c.1771_2insC p.Arg591fs Pathogenic CM Wooderchak-Donahue (2012)  
86669978 Intron 13 Deletion c.1964-3delT Benign ARUP Laboratories  
86670074 Exon 14 Nonsense c.1870C>T p.Gln624X Pathogenic CM, AVM/AVF Revencu (2008)  
86672225 Exon 16 Nonsense c.2026C>T p.Gln676X Pathogenic CM Revencu (2008), ARUP  
86672282 Exon 16 Missense c.2084A>T p.His695Leu Pathogenic CM Wooderchak-Donahue (2012)  
86672324 Exon 16 Nonsense c.2125C>T p.Arg709X Pathogenic CM, AVM/AVF, PKWS Revencu (2008)
86672324 Exon 16 Nonsense c.2125C>T p.Arg709X Pathogenic CM, PKWS Revencu (2008)
86672383 Intron 16 Deletion, Splice Site c.2184+1delG Pathogenic CM, PKWS Revencu (2008)
86672698 Intron 16 Splice Site c.2185-1G>A Pathogenic CM Revencu (2008)  
86672738 Exon 17 Nonsense c.2225C>A p.Ser742X Pathogenic CM Wooderchak-Donahue (2012)  
86672752 Exon 17 Nonsense c.2239C>T p.Gln747X Pathogenic CM Wooderchak-Donahue (2012)  
86672766 Exon 17 Duplication c.2252_2255dupTACT het p.Leu751fs Pathogenic CM Hershkovitz (2008a)
86672802 Exon 17 Missense c.2288A>T p.Glu763Val Pathogenic CM, AVM/AVF Revencu (2008)
86672842 Exon 17 Nonsense c.2329G>T p.Glu777X Pathogenic CM, AVF Thiex (2010)  
86672855 Exon 17 Nonsense c.2341G>T p.Glu781X Pathogenic CM, AVM/AVF Revencu (2008)
86672855 Exon 17 Deletion c.2336_2337delGC p.Ser779fs Pathogenic CM, AVM Eerola (2003)
86674234 Exon 18 Nonsense c.2365C>T p.Arg789X Pathogenic CM, AVM/AVF Revencu (2008)
86674291 Exon 18 Nonsense c.2422C>T p.Gln808X Pathogenic CM, PKWS Revencu (2008)  
86674319 Exon 18 Deletion c.2450_2451delCT p.Ser817fs Pathogenic CM, AVM/AVF Revencu (2008)  
86675450 Intron 18 SNP c.2488-102G>A Benign ARUP Laboratories  
86675511 Intron 18 SNP c.2488-41A>C Benign ARUP Laboratories  
86675550 Intron 18 Splice Site c.2488-2A>G Pathogenic CM Revencu (2008)  
86675552 Intron 18 Deletion c.2488-1delGTTA Pathogenic CM, AVM/AVF Revencu (2008)
86675579 Exon 19 Insertion c.2514_2515insA p.Glu839fs Pathogenic CM Revencu (2008)  
86675597 Exon 19 Deletion c.2532_2536delTTTAA p.Leu845fs Pathogenic CM, AVM/AVF Revencu (2008)
86675644 Exon 19 Deletion c.2579_2582delTCAT p.Phe860fs Pathogenic CM, AVM/AVF Revencu (2008)
86675669 Intron 19 Splice Site c.2603+1G>A Pathogenic CM Revencu (2008)
86675670 Intron 19 Insertion, Splice Site c.2603+2_2603+3insT Pathogenic CM Revencu (2008)
86675672 Intron 19 Insertion, Splice Site c.2603+4_2603+5insA Pathogenic CM Revencu (2008)  
86675673 Intron 19 Splice Site c.2603+5G>T Pathogenic CM, PKWS Revencu (2008)
86676204 Intron 19 SNP c.2604-122T>C Benign ARUP Laboratories  
86679515 Intron 20 Deletion c.2691-16delA Benign ARUP Laboratories  
86679695 Intron 21 Deletion c.2945+98delT Benign ARUP Laboratories  
86685167 Intron 23 Deletion c.3113-44delA Benign ARUP Laboratories  
86685313 Exon 24 Nonsense c.3028C>T p.Arg1010X Pathogenic CM Revencu (2008)
86685337 Exon 24 Deletion c.3052delG p.Ala1018fs Pathogenic CM Revencu (2008)  
86685367 Intron 24 SNP c.3060 + 21A>G Pathogenic CM Wooderchak-Donahue (2012)  
86686624 Exon 25 Silent c.3067T>C p.Leu1023Leu Benign Haga (2002)
86686797 Intron 25 SNP c.3144 + 97A>G Pathogenic CM Wooderchak-Donahue (2012)