Variant (rsID / SNP)

rs28939084

rs28939084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,795,961. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TMPRSS3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:43795961
Cytoband: 21q22.3
HGVS: NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu)
Allele change: Missense_P403L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 8|Ear malformation

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.