Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs370899710

TMIE

rs370899710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMIE. Location: chromosome 3, position 46,751,073. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TMIEConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:46751073
Cytoband
3p21.31
HGVS
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu)
Allele change
Missense_D122E

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.