Variant (rsID / SNP)

rs886043737

rs886043737 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,268,801. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

COL6A3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:238268801
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
Allele change: Missense_G1464D

Associated conditions / phenotypes

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.