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 SLC26A4:c.1300G>A, p.Ala434Thr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
107334884	107694439

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1300G>A

PROTEIN CHANGE

p.Ala434Thr

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
2.392e-05	0.0	8.691e-05	0.0	0.0	0.0	1.765e-05	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.672542	Disease causing

DBSNP ID

2 combinations linked to SLC26A4:c.1300G>A, p.Ala434Thr

2 diseases linked to SLC26A4:c.1300G>A, p.Ala434Thr

Pendred syndrome; Congenital hypothyroidism

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