Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs552651651

COL6A3

rs552651651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,243,370. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL6A3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:238243370
Cytoband
2q37.3
HGVS
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
Allele change
Missense_R2436H

Associated conditions / phenotypes

Dystonia 27|Collagen 6-related myopathy|Bethlem myopathy 1|Toe walking

Public references

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