Variant (rsID / SNP)

rs189623561

rs189623561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,421,947. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COL6A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:47421947
Cytoband: 21q22.3
HGVS: NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys)
Allele change: Missense_R677C

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.