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Variant (rsID / SNP)

rs28942097

TMIE

rs28942097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMIE. Location: chromosome 3, position 46,750,654. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMIEPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:46750654
Cytoband
3p21.31
HGVS
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
Allele change
Missense_R84W

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 6|Sensorineural hearing loss disorder|Hearing impairment|Hearing loss, autosomal recessive

Public references

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