Variant (rsID / SNP)

rs200667230

rs200667230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,542,422. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COL6A2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:47542422
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys)
Allele change: Missense_E529K

Associated conditions / phenotypes

Bethlem myopathy 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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