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Variant (rsID / SNP)

rs147231991

TMPRSS3

rs147231991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,808,545. 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
21:43808545
Cytoband
21q22.3
HGVS
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
Allele change
Missense_A138E

Associated conditions / phenotypes

Rare genetic deafness|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.