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Details for PNPLA7:c.3608T>C, p.Ile1203Thr

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140356456	137462004

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3608T>C

PROTEIN CHANGE

p.Ile1203Thr

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
1.741e-05	0.0	0.0	0.0	0.0	0.0	3.89e-05	0.0	0.0

ESP
AA	EA
0.0	0.0001166

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.824262	Polymorphism

DBSNP ID

1 combination linked to PNPLA7:c.3608T>C, p.Ile1203Thr

1 disease linked to PNPLA7:c.3608T>C, p.Ile1203Thr

Normosmic congenital hypogonadotropic hypogonadism

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