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Details for PNPLA6:c.2389G>A, p.Val797Met

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7618859	7553973

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2389G>A

PROTEIN CHANGE

p.Val797Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00175	0.0006154	0.0009832	0.0	0.0	0.0008317	0.002789	0.002445	0.001502

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.491665	Polymorphism

DBSNP ID

1 combination linked to PNPLA6:c.2389G>A, p.Val797Met

1 disease linked to PNPLA6:c.2389G>A, p.Val797Met

Hypogonadotropic hypogonadism with absent puberty phenotype

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