This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for PNPLA6:c.1198G>A, p.Asp400Asn

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
7606872	7541986

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1198G>A

PROTEIN CHANGE

p.Asp400Asn

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.380245	Polymorphism

DBSNP ID

1 combination linked to PNPLA6:c.1198G>A, p.Asp400Asn

1 disease linked to PNPLA6:c.1198G>A, p.Asp400Asn

Hypogonadotropic hypogonadism with absent puberty phenotype

Found any issues with the data on this page? Report this entry.