Variant (rsID / SNP)

rs1042917

rs1042917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,545,768. Clinical significance in the table: Benign.

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Reference-table entries

COL6A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 21:47545768
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
Allele change: Missense_R680H

Associated conditions / phenotypes

Myosclerosis|Collagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 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.