Unique variants in the IRS4 gene

Information The variants shown are described using the NM_003604.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     

Owner     
-/. 1 - c.60G>A r.(?) p.(Ala20=) - benign g.107979515C>T g.108736285C>T IRS4(NM_003604.2):c.60G>A (p.A20=) - IRS4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.63G>A r.(?) p.(Ala21=) - benign g.107979512C>T g.108736282C>T IRS4(NM_003604.2):c.63G>A (p.A21=) - IRS4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.100C>T r.(?) p.(Leu34Phe) - benign g.107979475G>A g.108736245G>A IRS4(NM_003604.2):c.100C>T (p.L34F) - IRS4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.138C>T r.(?) p.(Thr46=) - benign g.107979437G>A g.108736207G>A IRS4(NM_003604.2):c.138C>T (p.T46=) - IRS4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.354C>T r.(?) p.(Phe118=) - benign g.107979221G>A g.108735991G>A IRS4(NM_003604.2):c.354C>T (p.F118=) - IRS4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.554C>A r.(?) p.(Ser185Ter) - likely pathogenic g.107979021G>T g.108735791G>T IRS4(NM_003604.2):c.554C>A (p.S185*) - IRS4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.582C>A r.(?) p.(Leu194=) - likely benign g.107978993G>T - IRS4(NM_003604.2):c.582C>A (p.L194=) - IRS4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.610C>A r.(?) p.(Arg204Ser) - likely benign g.107978965G>T g.108735735G>T IRS4(NM_003604.2):c.610C>A (p.R204S) - IRS4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.663G>T r.(?) p.(Ala221=) - likely benign g.107978912C>A g.108735682C>A IRS4(NM_003604.2):c.663G>T (p.A221=) - IRS4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1065G>C r.(?) p.(Leu355=) - likely benign g.107978510C>G - IRS4(NM_003604.2):c.1065G>C (p.L355=) - IRS4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1192C>G r.(?) p.(Arg398Gly) - VUS g.107978383G>C g.108735153G>C IRS4(NM_003604.2):c.1192C>G (p.(Arg398Gly)) - IRS4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1198G>A r.(?) p.(Val400Ile) - likely benign g.107978377C>T g.108735147C>T IRS4(NM_003604.2):c.1198G>A (p.V400I) - IRS4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1215T>C r.(?) p.(Pro405=) - benign g.107978360A>G g.108735130A>G IRS4(NM_003604.2):c.1215T>C (p.P405=) - IRS4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1232G>A r.(?) p.(Arg411Gln) - benign g.107978343C>T g.108735113C>T IRS4(NM_003604.2):c.1232G>A (p.R411Q) - IRS4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.1233A>T r.(?) p.(Arg411=) - benign g.107978342T>A g.108735112T>A IRS4(NM_003604.2):c.1233A>T (p.R411=) - IRS4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1250C>T r.(?) p.(Pro417Leu) - likely benign g.107978325G>A g.108735095G>A IRS4(NM_003604.2):c.1250C>T (p.P417L) - IRS4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1315A>T r.(?) p.(Ser439Cys) - benign g.107978260T>A g.108735030T>A IRS4(NM_003604.2):c.1315A>T (p.S439C) - IRS4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1353C>T r.(=) p.(=) - VUS g.107978222G>A g.108734992G>A N451N - IRS4_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1357G>A r.(?) p.(Gly453Arg) - likely benign g.107978218C>T - IRS4(NM_003604.2):c.1357G>A (p.G453R) - IRS4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1495C>T r.(?) p.(Arg499Trp) - VUS g.107978080G>A g.108734850G>A IRS4(NM_003604.2):c.1495C>T (p.R499W) - IRS4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.1523A>G r.(?) p.(Asn508Ser) - likely benign g.107978052T>C g.108734822T>C IRS4(NM_003604.2):c.1523A>G (p.N508S) - IRS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.1524T>A r.(?) p.(Asn508Lys) - benign g.107978051A>T g.108734821A>T IRS4(NM_003604.2):c.1524T>A (p.N508K) - IRS4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1587_1588insT r.(?) p.(Arg530Serfs*18) - pathogenic g.107977987_107977988insA - IRS4(NM_003604.2):c.1587_1588insT (p.R530Sfs*18) - IRS4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1735G>A r.(?) p.(Gly579Ser) - likely benign g.107977840C>T g.108734610C>T IRS4(NM_003604.2):c.1735G>A (p.G579S) - IRS4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1772dup r.(?) p.(Lys592GlnfsTer12) - pathogenic g.107977810dup g.108734580dup IRS4(NM_003604.2):c.1772dupG (p.K592Qfs*12) - IRS4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1825T>G r.(?) p.(Ser609Ala) - VUS g.107977750A>C g.108734520A>C - - IRS4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1873C>A r.(?) p.(Gln625Lys) - likely benign g.107977702G>T g.108734472G>T IRS4(NM_003604.2):c.1873C>A (p.(Gln625Lys)) - IRS4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1874A>G r.(?) p.(Gln625Arg) - likely benign g.107977701T>C - IRS4(NM_003604.2):c.1874A>G (p.Q625R) - IRS4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2046dup r.(?) p.(Ala683Serfs*11) - pathogenic g.107977529dup - IRS4(NM_003604.2):c.2046dupA (p.A683Sfs*11) - IRS4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2258C>G r.(?) p.(Pro753Arg) - VUS g.107977317G>C g.108734087G>C IRS4(NM_003604.2):c.2258C>G (p.P753R) - IRS4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 - c.2635C>G r.(?) p.(His879Asp) - benign, VUS g.107976940G>C g.108733710G>C H879D, IRS4(NM_003604.2):c.2635C>G (p.H879D) - IRS4_000004 recurrent, found 36 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 36/208 cases - - - Lucy Raymond, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.2667T>A r.(?) p.(Pro889=) - benign g.107976908A>T - IRS4(NM_003604.2):c.2667T>A (p.P889=) - IRS4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2852C>T r.(?) p.(Pro951Leu) - likely benign g.107976723G>A g.108733493G>A IRS4(NM_003604.2):c.2852C>T (p.P951L) - IRS4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2931T>A r.(?) p.(Asp977Glu) - likely benign g.107976644A>T - IRS4(NM_003604.2):c.2931T>A (p.D977E) - IRS4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3105C>T r.(?) p.(Ala1035=) - benign g.107976470G>A - IRS4(NM_003604.2):c.3105C>T (p.A1035=) - IRS4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.3441C>T r.(?) p.(Gly1147=) - likely benign g.107976134G>A - IRS4(NM_003604.2):c.3441C>T (p.G1147=) - IRS4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 - c.3472G>A r.(?) p.(Ala1158Thr) - benign, VUS g.107976103C>T g.108732873C>T IRS4(NM_003604.2):c.3472G>A (p.A1158T, p.(Ala1158Thr)) - IRS4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.3585C>T r.(?) p.(Asn1195=) - likely benign g.107975990G>A - IRS4(NM_003604.2):c.3585C>T (p.N1195=) - IRS4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3620C>T r.(?) p.(Ala1207Val) - VUS g.107975955G>A g.108732725G>A A1207V - IRS4_000025 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.3624T>G r.(?) p.(Ala1208=) - likely benign g.107975951A>C - IRS4(NM_003604.2):c.3624T>G (p.A1208=) - IRS4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3663G>A r.(=) p.(=) - VUS g.107975912C>T g.108732682C>T R1221R - IRS4_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-/. 2 - c.3688G>T r.(?) p.(Asp1230Tyr) - benign g.107975887C>A g.108732657C>A IRS4(NM_003604.2):c.3688G>T (p.D1230Y) - IRS4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.3769C>A r.(?) p.(Arg1257=) - benign g.107975806G>T g.108732576G>T IRS4(NM_003604.2):c.3769C>A (p.R1257=) - IRS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
Legend   How to query