Variant: rs397514599 

    present in Gene: PNPT1
    present in Chromosome: 2
    Position on Chromosome: 55656148
    Alleles of this Variant: T/C

rs397514599 in PNPT1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 70 PMID 23084290 2012 A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.