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 EPHA2:c.1532C>T, p.Thr511Met

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
16461581	16135086

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1532C>T

PROTEIN CHANGE

p.Thr511Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0054	0.0	0.0029	0.0238	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002533	0.0	2.892e-05	0.0	0.02998	0.0	5.286e-05	0.000653	0.002417

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.119081	Polymorphism

DBSNP ID

2 combinations linked to EPHA2:c.1532C>T, p.Thr511Met

1 disease linked to EPHA2:c.1532C>T, p.Thr511Met

Pendred syndrome

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