Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201879417

COL6A2

rs201879417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,545,696. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL6A2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:47545696
Cytoband
21q22.3
HGVS
NM_001849.4(COL6A2):c.1970-3C>A
Allele change
Silent

Associated conditions / phenotypes

Collagen 6-related myopathy|Myosclerosis|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Bethlem myopathy 1

Public references

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