Variant (rsID / SNP)

rs727503520

rs727503520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPRN. Location: chromosome 9, position 140,086,727. Clinical significance in the table: Likely benign.

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Reference-table entries

TPRNLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:140086727
Cytoband: 9q34.3
HGVS: NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)
Allele change: Missense_P686L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 79

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.