Variant (rsID / SNP)

rs144830948

rs144830948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,551,964. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL6A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:47551964
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
Allele change: Missense_R853Q

Associated conditions / phenotypes

Myosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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