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Variant (rsID / SNP)

rs28941781

TMIE

rs28941781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMIE. Location: chromosome 3, position 46,750,678. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TMIEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:46750678
Cytoband
3p21.31
HGVS
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)
Allele change
Missense_R92W

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 6

Public references

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