Variant (rsID / SNP)

rs375430758

rs375430758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A2. Location: chromosome 21, position 47,552,286. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL6A2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:47552286
Cytoband: 21q22.3
HGVS: NM_001849.4(COL6A2):c.2880G>A (p.Ser960=)
Allele change: Synonymous_S960S

Associated conditions / phenotypes

Bethlem myopathy 1|Collagen 6-related myopathy

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.