PJVK Chromosome 2
Pejvakin
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What This Gene Does
The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Gasdermins
Locus Type
gene with protein product
Location
2q31.2
Ensembl
ENSG00000204311
Associated Conditions (8)
Autosomal recessive nonsyndromic hearing loss 59
PJVK-related disorder
Inborn genetic diseases
Deafness
Ear malformation
Hearing loss
autosomal recessive
Rare genetic deafness
Key Variants
RS1401377322
Conflicting classifications of pathogenicity
Health Risk
RS144704250
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS1684057503
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS17304212
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS185220846
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS199967536
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS200502817
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, PJVK-related disorder, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS200507933
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS200686247
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, PJVK-related disorder, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS200811582
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS201237972
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
RS2154126353
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750448421 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |
| RS757539839 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |
| RS761546140 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59 |