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Details for KISS1R:c.407T>G, p.Met136Arg

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
919527	919527

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.407T>G

PROTEIN CHANGE

p.Met136Arg

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
5.637e-06	0.0	0.0	0.0	0.0	0.0	1.307e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	4.233035	Disease causing

DBSNP ID

1 combination linked to KISS1R:c.407T>G, p.Met136Arg

1 disease linked to KISS1R:c.407T>G, p.Met136Arg

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