Variant (rsID / SNP)

rs118203989

rs118203989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PJVK. Location: chromosome 2, position 179,320,828. Clinical significance in the table: Pathogenic.

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Reference-table entries

PJVKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:179320828
Cytoband: 2q31.2
HGVS: NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)
Allele change: Silent

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 59|Rare genetic deafness

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.