Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs1053312

COL6A1

rs1053312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A1. Location: chromosome 21, position 47,423,389. Clinical significance in the table: Benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

COL6A1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
21:47423389
Cytoband
21q22.3
HGVS
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His)
Allele change
Missense_R850H

Associated conditions / phenotypes

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

Public references

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