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 POU1F1:c.148T>G, p.Ser50Ala

CHROMOSOME

3

GENOMIC COORDINATES

hg19	hg38
87322641	87273491

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.148T>G

PROTEIN CHANGE

p.Ser50Ala

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	2.218878	Polymorphism

DBSNP ID

1 combination linked to POU1F1:c.148T>G, p.Ser50Ala

1 disease linked to POU1F1:c.148T>G, p.Ser50Ala

Non-acquired combined pituitary hormone deficiency

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