Variant (rsID / SNP)
rs114853749
rs114853749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC6. Location: chromosome 17, position 76,117,158. Clinical significance in the table: Benign.
Reference-table entries
TMC6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:76117158
- Cytoband
- 17q25.3
- HGVS
- NM_001127198.5(TMC6):c.1471C>T (p.Arg491Cys)
- Allele change
- Missense_R491C
Associated conditions / phenotypes
Epidermodysplasia verruciformis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.