Skip to main content

Table 3 Patients with biallelic mutations of SLC26A4 tested for variants within the KCNJ10 gene

From: Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

Patient

SLC26A4 allele 1

SLC26A4 allele 2

KCNJ10 variant

dbSNP

66119

c.1229C > T p.Thr410Met

c.1229C > T p.Thr410Met

c.811C > T p.Arg271Cys

rs1130183

5472

c.707T > C p.Leu236Pro

c.626G > T p.Gly209Val

c.53G > A p.Arg18Gln

rs115466046

6401

c.707T > C p.Leu236Pro

c.707T > C p.Leu236Pro

N

 
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us