Variant (rsID / SNP)
rs2646254
rs2646254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,267,717. Clinical significance in the table: Benign.
Reference-table entries
COL6A3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:238267717
- Cytoband
- 2q37.3
- HGVS
- NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=)
- Allele change
- Synonymous_L1516L
Associated conditions / phenotypes
Collagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.