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Variant (rsID / SNP)

rs398123640

COL6A1

rs398123640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,409,007. 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
21:47409007
Cytoband
21q22.3
HGVS
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser)
Allele change
Missense_G272S

Associated conditions / phenotypes

EMG abnormality|Motor delay|Limb-girdle muscle weakness

Public references

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