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 ERBB4:c.95C>T, p.Thr32Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
212989616	212124891

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.95C>T

PROTEIN CHANGE

p.Thr32Met

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
3.978e-06	0.0	0.0	0.0	0.0	0.0	8.795e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.676179	Disease causing

DBSNP ID

1 combination linked to ERBB4:c.95C>T, p.Thr32Met

1 disease linked to ERBB4:c.95C>T, p.Thr32Met

Primary ovarian failure

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