Variant (rsID / SNP)

rs121434553

rs121434553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,275,794. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL6A3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:238275794
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
Allele change: Missense_G1072E

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.