Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs142882745

COL6A1

rs142882745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,410,727. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL6A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:47410727
Cytoband
21q22.3
HGVS
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu)
Allele change
Missense_S348L

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.