Details for MAP3K1:c.2665G>C, p.Val889Leu

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
5617769256881865
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MAP3K1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_005921.2
CDNA CHANGE c.2665G>C
PROTEIN CHANGE p.Val889Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0020.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00036580.00.00.00.0050680.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign0.726655Polymorphism
DBSNP ID rs56228802
1 combination linked to MAP3K1:c.2665G>C, p.Val889Leu OLI997
2 diseases linked to MAP3K1:c.2665G>C, p.Val889Leu Androgen insensitivity syndrome; 46,XY disorder of sex development
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