Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs374447921

COL6A3

rs374447921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,283,363. 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
2:238283363
Cytoband
2q37.3
HGVS
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val)
Allele change
Missense_A517V

Associated conditions / phenotypes

Collagen 6-related myopathy|Bethlem myopathy 1

Public references

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