Details for KISS1R:c.929G>A, p.Cys310Tyr

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
920480920480
VARIANT EFFECT None
ANNOTATION FLAG None
GENE KISS1R
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.929G>A
PROTEIN CHANGE p.Cys310Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.313062None
DBSNP ID NA
1 combination linked to KISS1R:c.929G>A, p.Cys310Tyr OLI1355
1 disease linked to KISS1R:c.929G>A, p.Cys310Tyr Normosmic congenital hypogonadotropic hypogonadism
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