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Variant (rsID / SNP)

rs139805921

TMPRSS3

rs139805921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,809,044. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMPRSS3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
21:43809044
Cytoband
21q22.3
HGVS
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
Allele change
Missense_R106C

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 8|Hearing impairment

Public references

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