Details for GRID1:c.499A>G, p.Met167Val

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
8796614286206385
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GRID1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_017551.2
CDNA CHANGE c.499A>G
PROTEIN CHANGE p.Met167Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.619e-050.00.00017410.00.00.00.00.00032933.302e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.39468Polymorphism
DBSNP ID rs956188880
1 combination linked to GRID1:c.499A>G, p.Met167Val OLI597
1 disease linked to GRID1:c.499A>G, p.Met167Val Disorder of sex development
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