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Variant (rsID / SNP)

rs200507933

PJVK

rs200507933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PJVK. Location: chromosome 2, position 179,319,097. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PJVKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:179319097
Cytoband
2q31.2
HGVS
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 59

Public references

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