Variant (rsID / SNP)
rs563505047
rs563505047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,532,344. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL6A2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47532344
- Cytoband
- 21q22.3
- HGVS
- NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
- Allele change
- Synonymous_A189A
Associated conditions / phenotypes
Bethlem myopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.