Details for GNRHR:c.401T>G, p.Val134Gly

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
6861965367753935
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GNRHR
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_000406.2
CDNA CHANGE c.401T>G
PROTEIN CHANGE p.Val134Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.79e-050.00.00020270.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.33248Disease causing
DBSNP ID rs188272653
1 combination linked to GNRHR:c.401T>G, p.Val134Gly OLI165
1 disease linked to GNRHR:c.401T>G, p.Val134Gly Normosmic congenital hypogonadotropic hypogonadism
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