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Variant (rsID / SNP)

rs113002150

COL6A2

rs113002150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,551,923. 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
21:47551923
Cytoband
21q22.3
HGVS
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
Allele change
Synonymous_D839D

Associated conditions / phenotypes

Collagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1

Public references

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