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NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) AND Deafness, X-linked 2

Significance: Pathogenic
ClinVar: RCV000012448

Variant: NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)

Type: Variant
Allele: NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) 26721
Gene:
Type: single nucleotide variant
Location: ChrX: 83509259 - assembly GRCh38
ChrX: 82764267 - assembly GRCh37
References: dbSNP: 387906502
OMIM: 300039.0007

Condition

Disease: Deafness, X-linked 2

Citation

    In a British family in which 2 brothers and their maternal uncle had profound sensorineural deafness 'diagnosed in infancy with no suggestion of a conductive component' (DFNX2; 304400) and in the asymptomatic maternal grandmother, Bitner-Glindzicz et al. (1995) identified a C-to-T transition at nucleotide 935 of the POU3F4 gene resulting in an alanine to valine substitution in a highly conserved residue of the homeodomain of the predicted protein.
PMID:7581392