Variant (rsID / SNP)

rs79399438

rs79399438 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PJVK. Location: chromosome 2, position 179,325,816. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PJVKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:179325816
Cytoband: 2q31.2
HGVS: NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 59

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.