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