Variant (rsID / SNP)
rs202092407
rs202092407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,256,472. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL6A3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:238256472
- Cytoband
- 2q37.3
- HGVS
- NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu)
- Allele change
- Missense_P1729H
Associated conditions / phenotypes
Inborn genetic diseases|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.