Details for GNRH1:c.41G>A, p.Gly14Asp

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
2528081825423302
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE GNRH1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000825.3
CDNA CHANGE c.41G>A
PROTEIN CHANGE p.Gly14Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.011e-060.00.00.05.565e-050.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.49166Polymorphism
DBSNP ID rs1445541945
1 combination linked to GNRH1:c.41G>A, p.Gly14Asp OLI354
1 disease linked to GNRH1:c.41G>A, p.Gly14Asp Kallmann syndrome
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