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Details for PNPLA6:c.1123G>C, p.Ala375Pro

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7606498	7541612

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1123G>C

PROTEIN CHANGE

p.Ala375Pro

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
5.768e-05	0.0	6.502e-05	0.0	0.0	0.0	0.0001102	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.088342	Polymorphism

DBSNP ID

1 combination linked to PNPLA6:c.1123G>C, p.Ala375Pro

1 disease linked to PNPLA6:c.1123G>C, p.Ala375Pro

Hypogonadotropic hypogonadism with partial puberty phenotype

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