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Details for KISS1R:c.424T>G, p.Tyr142Asp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
919544	919544

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.424T>G

PROTEIN CHANGE

p.Tyr142Asp

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.113125	Disease causing

DBSNP ID

1 combination linked to KISS1R:c.424T>G, p.Tyr142Asp

1 disease linked to KISS1R:c.424T>G, p.Tyr142Asp

Normosmic congenital hypogonadotropic hypogonadism

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