Variant (rsID / SNP)
rs78427077
rs78427077 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,283,616. 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
- 2:238283616
- Cytoband
- 2q37.3
- HGVS
- NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
- Allele change
- Missense_V433I
Associated conditions / phenotypes
Collagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27|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.