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Variant (rsID / SNP)

rs111341650

COL6A2

rs111341650 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,552,157. 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
21:47552157
Cytoband
21q22.3
HGVS
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
Allele change
Synonymous_V917V

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.