Variant (rsID / SNP)

rs146159479

rs146159479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,809,121. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMPRSS3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:43809121
Cytoband: 21q22.3
HGVS: NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
Allele change: Missense_R80H

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 8

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.