Variant (rsID / SNP)
rs3274
rs3274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COLQ. Location: chromosome 3, position 15,491,756. Clinical significance in the table: Benign.
Reference-table entries
COLQBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:15491756
- Cytoband
- 3p25.1
- HGVS
- NM_005677.4(COLQ):c.*1395C>T
- Allele change
- Silent
Associated conditions / phenotypes
Congenital myasthenic syndrome 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.