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Details for PNPLA6:c.1484C>T, p.Pro495Leu

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7607741	7542855

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1484C>T

PROTEIN CHANGE

p.Pro495Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0036	0.0008	0.0058	0.0	0.0119	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004748	0.001648	0.002431	0.00201	0.0	0.004629	0.008173	0.004793	0.0002287

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.648132	Polymorphism

DBSNP ID

2 combinations linked to PNPLA6:c.1484C>T, p.Pro495Leu

OLI1411; OLI1421

1 disease linked to PNPLA6:c.1484C>T, p.Pro495Leu

Hypogonadotropic hypogonadism with absent puberty phenotype

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