Variant (rsID / SNP)

rs398124128

rs398124128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,268,730. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL6A3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:238268730
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.6282+1G>A
Allele change: Silent

Associated conditions / phenotypes

Ullrich congenital muscular dystrophy 1|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.