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Variant (rsID / SNP)

rs760380736

COL6A3

rs760380736 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,285,811. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL6A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:238285811
Cytoband
2q37.3
HGVS
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
Allele change
Missense_E285K

Associated conditions / phenotypes

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.