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Details for KISS1R:c.772C>T, p.Arg258Trp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
920323	920323

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.772C>T

PROTEIN CHANGE

p.Arg258Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.35e-05	0.0	0.0	0.0	0.0	0.0	4.113e-05	0.0	4.017e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Unknown	3.913446	None

DBSNP ID

1 combination linked to KISS1R:c.772C>T, p.Arg258Trp

1 disease linked to KISS1R:c.772C>T, p.Arg258Trp

Normosmic congenital hypogonadotropic hypogonadism

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