Gene entry
PJVK
pejvakin
- Chromosome
- 2
- Cytoband
- 2q31.2
- Variants (rsID)
- 8
PJVK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q31.2). Its official name is “pejvakin”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs79399438Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 59
- rs185220846Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 59
- rs200507933Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 59
- rs200811582Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 59
- rs118203989Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 59|Rare genetic deafness
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.