Variant (rsID / SNP)
rs151079701
rs151079701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,253,016. Clinical significance in the table: Benign.
Reference-table entries
COL6A3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:238253016
- Cytoband
- 2q37.3
- HGVS
- NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
- Allele change
- Missense_R1942W
Associated conditions / phenotypes
Collagen 6-related myopathy|Bethlem myopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.