Variant (rsID / SNP)
rs3027247
rs3027247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTC1. Location: chromosome 17, position 8,130,867. Clinical significance in the table: Benign.
Reference-table entries
CTC1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:8130867
- Cytoband
- 17p13.1
- HGVS
- NM_025099.6(CTC1):c.*631T>G
- Allele change
- Silent
Associated conditions / phenotypes
Dyskeratosis congenita
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.