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Variant (rsID / SNP)

rs185332310

TMPRSS3

rs185332310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS3. Location: chromosome 21, position 43,809,148. 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
21:43809148
Cytoband
21q22.3
HGVS
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser)
Allele change
Missense_F71S

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.