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Variant (rsID / SNP)

rs200200671

COL6A2

rs200200671 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,552,333. 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
21:47552333
Cytoband
21q22.3
HGVS
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
Allele change
Missense_L976S

Associated conditions / phenotypes

Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1

Public references

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