Details for INSR:c.3034G>A, p.Val1012Met

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
71255187125507
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE INSR
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000208.3
CDNA CHANGE c.3034G>A
PROTEIN CHANGE p.Val1012Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0050.00080.00580.00.0050.0153

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0084150.0016610.0021680.017770.00010880.0071620.0083920.006030.02241

ESP
AAEA
0.0020430.008605
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.777767Polymorphism
DBSNP ID rs1799816
1 combination linked to INSR:c.3034G>A, p.Val1012Met OLI715
1 disease linked to INSR:c.3034G>A, p.Val1012Met Isolated anencephaly
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