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Variant (rsID / SNP)

rs200811582

PJVK

rs200811582 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PJVK. Location: chromosome 2, position 179,326,003. 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
2:179326003
Cytoband
2q31.2
HGVS
NM_001042702.5(PJVK):c.*2A>C
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.