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Table 1 Prediction of pathogenicity of the homozygous mutation c.251T>C in the PDZD7 gene

From: A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss

Gene
(RefSeq)
Mutation PROVEAN SIFT Polyphen Mutation Taster Mutation Assessor CAAD-Phred Phenotype
PDZD7
(NM_001195263)
c.251T>C
(I84T)
D D D D L 19.25 ARNSHL
  1. D, damaging; L, low pathogenicity; ARNSHL, autosomal recessive non-syndromic hearing loss