Variant (rsID / SNP)
rs747900252
rs747900252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,545,690. 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
- 21:47545690
- Cytoband
- 21q22.3
- HGVS
- NM_001849.4(COL6A2):c.1970-9G>A
- Allele change
- Silent
Associated conditions / phenotypes
Myosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1|Falls|Muscle weakness|Congenital dislocation of hip|Difficulty walking|Hip flexor weakness|Qualitative or quantitative defects of collagen 6|Bethlem myopathy|Ullrich congenital muscular dystrophy 1|Abnormality of the musculature
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.