Variant (rsID / SNP)
rs372710475
rs372710475 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC1. Location: chromosome 9, position 75,406,910. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TMC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:75406910
- Cytoband
- 9q21.13
- HGVS
- NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
- Allele change
- Missense_R445C
Associated conditions / phenotypes
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 7|Autosomal dominant nonsyndromic hearing loss 36|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.