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Variant (rsID / SNP)

rs397517379

TMPRSS3

rs397517379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,800,299. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMPRSS3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:43800299
Cytoband
21q22.3
HGVS
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=)
Allele change
Synonymous_L325L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 8

Public references

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