Details for GNRHR:c.342C>A, p.Cys114Ter

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
6861971267753994
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GNRHR
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.342C>A
PROTEIN CHANGE p.Cys114Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.242447Disease causing
DBSNP ID NA
1 combination linked to GNRHR:c.342C>A, p.Cys114Ter OLI1166
1 disease linked to GNRHR:c.342C>A, p.Cys114Ter Kallmann syndrome
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