Variant (rsID / SNP)

rs143762350

rs143762350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,809,080. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TMPRSS3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:43809080
Cytoband: 21q22.3
HGVS: NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)
Allele change: Missense_G94R

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.