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Details for GNRHR:c.317A>G, p.Gln106Arg

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68619737	67754019

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.317A>G

PROTEIN CHANGE

p.Gln106Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0	0.0	0.005	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002842	0.0005536	0.002343	0.005858	0.0	0.001987	0.004183	0.002935	0.0009472

ESP
AA	EA
0.0006809	0.003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.003863	Disease causing

DBSNP ID

14 combinations linked to GNRHR:c.317A>G, p.Gln106Arg

OLI195; OLI199; OLI1165; OLI1239; OLI1275; OLI1277; OLI1288; OLI1296; OLI1300; OLI1377; OLI1379; OLI1385; OLI1532; OLI1604

7 diseases linked to GNRHR:c.317A>G, p.Gln106Arg

46,XY disorder of sex development; Isolated congenital hypogonadotropic hypogonadism; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Recurrent Pregnancy Loss,Recurrent implantation failure,Primary infertility; Kallmann syndrome

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