Variant (rsID / SNP)
rs144671871
rs144671871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,423,623. Clinical significance in the table: Benign.
Reference-table entries
COL6A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47423623
- Cytoband
- 21q22.3
- HGVS
- NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
- Allele change
- Missense_R928H
Associated conditions / phenotypes
Bethlem myopathy 1|Collagen 6-related myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.