Full data view for gene ARAF

Information The variants shown are described using the NM_001256196.1 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.44C>T VUS r.(?) p.(Ser15Phe) Unknown g.47422410C>T - ARAF(NM_001256196.1):c.44C>T (p.S15F) - SYN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201-3C>T likely benign r.spl? p.? Unknown g.47424193C>T - ARAF(NM_001256196.1):c.201-3C>T - ARAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.449A>G likely benign r.(?) p.(Asn150Ser) Unknown g.47424529A>G - ARAF(NM_001256196.1):c.449A>G (p.(Asn150Ser)) - SYN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551C>A - r.(?) p.(Thr184Asn) Parent #1 g.47424734C>A - - - ARAF_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.633G>C VUS r.(?) p.(Gln211His) Unknown g.47426104G>C - ARAF(NM_001256196.1):c.633G>C (p.Q211H) - SYN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.736+8C>A likely benign r.(=) p.(=) Unknown g.47426318C>A - ARAF(NM_001256196.1):c.736+8C>A (p.(=)) - SYN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737-5T>C likely benign r.spl? p.? Unknown g.47426380T>C - ARAF(NM_001256196.1):c.737-5T>C (p.?) - SYN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.794G>T likely benign r.(?) p.(Ser265Ile) Unknown g.47426442G>T - ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile)) - SYN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.796G>A likely benign r.(?) p.(Val266Met) Unknown g.47426444G>A - ARAF(NM_001256196.1):c.796G>A (p.V266M) - SYN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814T>G likely benign r.(?) p.(Ser272Ala) Unknown g.47426462T>G - ARAF(NM_001256196.1):c.814T>G (p.S272A) - ARAF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1019T>C VUS r.(?) p.(Val340Ala) Unknown g.47426765T>C - ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala)) - ARAF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1027G>A VUS r.(?) p.(Val343Met) Unknown g.47426773G>A - ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met)) - SYN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1787A>C likely benign r.(?) p.(Glu596Ala) Unknown g.47430813A>C - ARAF(NM_001256196.1):c.1787A>C (p.E596A) - ARAF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1296G>A likely benign r.(=) p.(=) Unknown g.47432152G>A - SYN1(NM_006950.3):c.*111C>T - SYN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1359G>T benign r.(=) p.(=) Unknown g.47432215G>T - SYN1(NM_006950.3):c.*48C>A - SYN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1529G>A likely benign r.(=) p.(=) Unknown g.47432385G>A - SYN1(NM_006950.3):c.1996C>T (p.L666=) - SYN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2589T>G likely benign r.(=) p.(=) Unknown g.47433445T>G - SYN1(NM_006950.3):c.1938A>C (p.P646=) - SYN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2766G>A likely benign r.(=) p.(=) Unknown g.47433622G>A - SYN1(NM_006950.3):c.1761C>T (p.R587=) - SYN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2828T>C likely benign r.(=) p.(=) Unknown g.47433684T>C - SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2828T>C likely benign r.(=) p.(=) Unknown g.47433684T>C - SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*2828T>C benign r.(=) p.(=) Unknown g.47433684T>C - SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2828T>C likely benign r.(=) p.(=) Unknown g.47433684T>C - SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)) - SYN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2867G>A VUS r.(=) p.(=) Unknown g.47433723G>A - SYN1(NM_006950.3):c.1660C>T (p.P554S) - SYN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2898A>G likely benign r.(=) p.(=) Unknown g.47433754A>G - SYN1(NM_006950.3):c.1629T>C (p.P543=) - SYN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2912C>T likely benign r.(=) p.(=) Unknown g.47433768C>T - SYN1(NM_006950.3):c.1615G>A (p.G539S) - SYN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2912C>T likely benign r.(=) p.(=) Unknown g.47433768C>T - SYN1(NM_006950.3):c.1615G>A (p.G539S) - SYN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3089G>A likely benign r.(=) p.(=) Unknown g.47433945G>A - - - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3557G>A likely benign r.(=) p.(=) Unknown g.47434413G>A - SYN1(NM_006950.3):c.1305+114C>T - SYN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3679G>A likely benign r.(=) p.(=) Unknown g.47434535G>A - SYN1(NM_006950.3):c.1297C>T (p.H433Y) - SYN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3712G>A pathogenic r.(=) p.(=) Unknown g.47434568G>A - SYN1(NM_006950.3):c.1264C>T (p.R422*) - SYN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4725G>A likely benign r.(=) p.(=) Unknown g.47435581G>A - SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4725G>A likely benign r.(=) p.(=) Unknown g.47435581G>A - SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4725G>A likely benign r.(=) p.(=) Unknown g.47435581G>A - SYN1(NM_006950.3):c.1107C>T (p.I369=) - SYN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4785_*4791del likely benign r.(=) p.(=) Unknown g.47435641_47435647del - SYN1(NM_006950.3):c.1056-14_1056-8del (p.(=)) - SYN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4863C>T likely benign r.(=) p.(=) Unknown g.47435719C>T - SYN1(NM_006950.3):c.1055+12G>A - SYN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5027G>A likely benign r.(=) p.(=) Unknown g.47435883G>A - SYN1(NM_006950.3):c.980+14C>T - SYN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*5077C>T likely benign r.(=) p.(=) Unknown g.47435933C>T - SYN1(NM_006950.3):c.944G>A (p.R315H) - SYN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5317C>T likely benign r.(=) p.(=) Unknown g.47436173C>T - SYN1(NM_006950.3):c.838-134G>A - SYN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*6025G>A VUS r.(=) p.(=) Unknown g.47436881G>A - - - SYN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*13505C>T likely benign r.(=) p.(=) Unknown g.47444361C>T - SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S) - SYN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*13505C>T VUS r.(=) p.(=) Unknown g.47444361C>T - SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S) - SYN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*13552G>T likely benign r.(=) p.(=) Unknown g.47444408G>T - TIMP1(NM_003254.2):c.195G>T (p.M65I) - SYN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*14067G>A likely benign r.(=) p.(=) Unknown g.47444923G>A - SYN1(NM_006950.3):c.775-8023C>T - SYN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*14165C>G likely benign r.(=) p.(=) Unknown g.47445021C>G - SYN1(NM_006950.3):c.775-8121G>C - SYN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*14441C>T likely benign r.(=) p.(=) Unknown g.47445297C>T - SYN1(NM_006950.3):c.775-8397G>A - SYN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*15122C>T likely benign r.(=) p.(=) Unknown g.47445978C>T - TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met)) - SYN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15164G>A likely benign r.(=) p.(=) Unknown g.47446020G>A - TIMP1(NM_003254.2):c.554G>A (p.R185H) - SYN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*15184C>T VUS r.(=) p.(=) Unknown g.47446040C>T - TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp)) - SYN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*15185G>A likely benign r.(=) p.(=) Unknown g.47446041G>A - TIMP1(NM_003254.2):c.575G>A (p.(Arg192Gln)) - SYN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15221C>T likely benign r.(=) p.(=) Unknown g.47446077C>T - TIMP1(NM_003254.2):c.611C>T (p.S204F) - SYN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*33706A>G likely benign r.(=) p.(=) Unknown g.47464562A>G - SYN1(NM_006950.3):c.684+60T>C - SYN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*33851C>T likely benign r.(=) p.(=) Unknown g.47464707C>T - SYN1(NM_006950.3):c.599G>A (p.S200N) - SYN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*33869C>T VUS r.(=) p.(=) Unknown g.47464725C>T - SYN1(NM_006950.3):c.581G>A (p.R194H) - SYN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*33870G>A VUS r.(=) p.(=) Unknown g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*33870G>A VUS r.(=) p.(=) Unknown g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*33870G>A VUS r.(=) p.(=) Unknown g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*33870G>A VUS r.(=) p.(=) Unknown g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*33870G>A likely benign r.(=) p.(=) Unknown g.47464726G>A - SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*35505A>G benign r.(=) p.(=) Unknown g.47466361A>G - SYN1(NM_006950.3):c.510T>C (p.N170=) - SYN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*35543T>G likely benign r.(=) p.(=) Unknown g.47466399T>G - SYN1(NM_006950.3):c.472A>C (p.N158H) - SYN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*35543T>G likely benign r.(=) p.(=) Unknown g.47466399T>G - SYN1(NM_006950.3):c.472A>C (p.N158H) - SYN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*35565A>C likely benign r.(=) p.(=) Unknown g.47466421A>C - SYN1(NM_006950.3):c.450T>G (p.D150E) - SYN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*35565A>C likely benign r.(=) p.(=) Unknown g.47466421A>C - SYN1(NM_006950.3):c.450T>G (p.D150E) - SYN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*35682A>G pathogenic r.(=) p.(=) Unknown g.47466538A>G - - - SYN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*35693T>C likely benign r.(=) p.(=) Unknown g.47466549T>C - SYN1(NM_006950.3):c.426A>G (p.K142=) - SYN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*35693T>C likely benign r.(=) p.(=) Unknown g.47466549T>C - SYN1(NM_006950.3):c.426A>G (p.K142=) - SYN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*47908G>A likely benign r.(=) p.(=) Unknown g.47478764G>A - SYN1(NM_006950.3):c.364C>T (p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*48083C>A likely benign r.(=) p.(=) Unknown g.47478939C>A - SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*48120G>C likely benign r.(=) p.(=) Unknown g.47478976G>C - SYN1(NM_006950.3):c.152C>G (p.(Ala51Gly)) - SYN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*48133C>T likely benign r.(=) p.(=) Unknown g.47478989C>T - SYN1(NM_006950.3):c.139G>A (p.G47R) - SYN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*48299G>C likely benign r.(=) p.(=) Unknown g.47479155G>C - SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*48352A>G likely benign r.(=) p.(=) Unknown g.47479208A>G - SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*52900T>C VUS r.(=) p.(=) Unknown g.47483756T>C - CFP(NM_002621.2):c.1328A>G (p.Q443R) - SYN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*52944G>A benign r.(=) p.(=) Unknown g.47483800G>A - CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*52944G>A benign r.(=) p.(=) Unknown g.47483800G>A - CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend