Variant (rsID / SNP)

rs2839500

rs2839500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,803,167. Clinical significance in the table: Benign.

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Reference-table entries

TMPRSS3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:43803167
Cytoband: 21q22.3
HGVS: NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val)
Allele change: Missense_I253V

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.