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Variant (rsID / SNP)

rs201854898

COL6A2

rs201854898 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,552,300. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL6A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:47552300
Cytoband
21q22.3
HGVS
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
Allele change
Missense_R965H

Associated conditions / phenotypes

Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.