Variant (rsID / SNP)

rs387906609

rs387906609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,537,830. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL6A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:47537830
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
Allele change: Nonsense_R366X

Associated conditions / phenotypes

BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE|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.