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Variant (rsID / SNP)

rs139520402

TPRN

rs139520402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPRN. Location: chromosome 9, position 140,086,761. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TPRNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:140086761
Cytoband
9q34.3
HGVS
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
Allele change
Missense_A675T

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 79

Public references

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