Variant (rsID / SNP)

rs181949335

rs181949335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,802,210. 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: 21:43802210
Cytoband: 21q22.3
HGVS: NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)
Allele change: Missense_A306T

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 8|Hearing impairment

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.