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Variant (rsID / SNP)

rs114131542

COL6A3

rs114131542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,275,360. 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
2:238275360
Cytoband
2q37.3
HGVS
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe)
Allele change
Missense_L1217F

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.