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Details for PNPLA6:c.4108G>A, p.Gly1370Ser

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7626428	7561542

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.4108G>A

PROTEIN CHANGE

p.Gly1370Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0008	0.0029	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005052	0.00167	0.002861	0.003441	0.0	0.008799	0.007954	0.004603	0.0002785

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.106544	Polymorphism

DBSNP ID

1 combination linked to PNPLA6:c.4108G>A, p.Gly1370Ser

1 disease linked to PNPLA6:c.4108G>A, p.Gly1370Ser

Hypogonadotropic hypogonadism with absent puberty phenotype

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