View unique variants in gene IRS1

Information The variants shown are described using the NM_005544.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 c.1534G>C p.(Ala512Pro) - - - - r.(?) - 2 Unknown - g.227661921C>G - - - IRS1_000003 MSCV_0019636 - - ; clinvar; - - - -
+/+, ./. 2 c.1823C>G p.(Thr608Arg) missense_variant - 1/2 benign(0.13) r.(?) -, tolerated(0.58) 2 Unknown subst g.227661632G>C - 4.210 - IRS1_000002 MSCV_0000881 rs104893642 - ; clinvar, , clinVar; Ensembl; 12679424 - - -
+/+ 1 c.1823C>T p.(Thr608Met) missense_variant - 1/2 possibly_damaging(0.53) r.(?) tolerated(0.11) 2 Unknown subst g.227661632G>A - 4.210 - IRS1_000001 MSCV_0000880 rs104893642 - ; clinVar; Ensembl; 12679424 - - -
./. 1 c.2057_2059del p.(Ser686del) - - - - r.(?) - 2 Unknown - g.227661396_227661398del - - - IRS1_000006 MSCV_0019634 - - ; clinvar; - - - -
./. 1 c.2452G>C p.(Gly818Arg) - - - - r.(?) - 2 Unknown - g.227661003C>G - - - IRS1_000005 MSCV_0019633 - - ; clinvar; - - - -
./. 1 c.3235C>T p.(Pro1079Ser) - - - - r.(?) - 2 Unknown - g.227660220G>A - - - IRS1_000004 MSCV_0019632 - - ; clinvar; - - - -
Legend