Variant (rsID / SNP)
rs200171616
rs200171616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC1. Location: chromosome 9, position 75,407,236. Clinical significance in the table: Pathogenic.
Reference-table entries
TMC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:75407236
- Cytoband
- 9q21.13
- HGVS
- NM_138691.3(TMC1):c.1534C>T (p.Arg512Ter)
- Allele change
- Nonsense_R512X
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.