Variant (rsID / SNP)

rs121912939

rs121912939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,409,531. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL6A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:47409531
Cytoband: 21q22.3
HGVS: NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)
Allele change: Missense_G290R

Associated conditions / phenotypes

Ullrich congenital muscular dystrophy 1, autosomal dominant|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.