View all transcript variants in gene IRS1

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.1823C>G p.(Thr608Arg) missense_variant - 1/2 benign(0.13) r.(?) tolerated(0.58) subst g.227661632G>C - 4.210 - IRS1_000002 rs104893642 - ; clinVar; Ensembl; 12679424 - - LOVD
+/+ c.1823C>T p.(Thr608Met) missense_variant - 1/2 possibly_damaging(0.53) r.(?) tolerated(0.11) subst g.227661632G>A - 4.210 - IRS1_000001 rs104893642 - ; clinVar; Ensembl; 12679424 - - LOVD
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