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Details for KISS1R:c.581C>A, p.Ala194Asp

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
919949	919949

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.581C>A

PROTEIN CHANGE

p.Ala194Asp

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
3.465e-05	0.0	0.0	0.0	0.0	0.0	7.094e-05	0.0002155	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.675996	Polymorphism

DBSNP ID

1 combination linked to KISS1R:c.581C>A, p.Ala194Asp

1 disease linked to KISS1R:c.581C>A, p.Ala194Asp

Kallmann syndrome

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