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Details for KISS1R:c.1195T>A, p.Ter399Arg

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
920746	920746

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1195T>A

PROTEIN CHANGE

p.Ter399Arg

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
6.809e-05	0.0	0.0	0.0	0.0	0.0	0.0001122	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.125806	Disease causing

DBSNP ID

2 combinations linked to KISS1R:c.1195T>A, p.Ter399Arg

OLI1284; OLI1400

2 diseases linked to KISS1R:c.1195T>A, p.Ter399Arg

Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype

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