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Table 2 A novel variant in the proband of family SH-02

From: Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss

Gene

MIM no.

Nucleotide

Amino acid

Zygosity

Prediction information

TMC1

138691

c.1979C>T

p.P660L

Hom

SIFT

Polyphen2

MutationTaster

     

Damaging

Probably damaging

Disease causing