Variant (rsID / SNP)

rs139552940

rs139552940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,551,895. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COL6A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:47551895
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
Allele change: Missense_R830Q

Associated conditions / phenotypes

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.