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Details for GNRHR:c.436C>T, p.Pro146Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
68619618	67753900

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.436C>T

PROTEIN CHANGE

p.Pro146Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001268	0.0001846	0.003855	0.0	0.0	0.0006943	0.001191	0.005241	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.296001	Disease causing

DBSNP ID

2 combinations linked to GNRHR:c.436C>T, p.Pro146Ser

OLI1387; OLI1517

2 diseases linked to GNRHR:c.436C>T, p.Pro146Ser

Hypogonadotropic hypogonadism with partial puberty phenotype; 46,XY disorder of sex development

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