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Variant (rsID / SNP)

rs145849970

COL6A1

rs145849970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,407,425. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL6A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:47407425
Cytoband
21q22.3
HGVS
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys)
Allele change
Missense_E251K

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.