Variant (rsID / SNP)

rs36020669

rs36020669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,244,939. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL6A3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:238244939
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val)
Allele change: Missense_A2328V

Associated conditions / phenotypes

Collagen 6-related myopathy|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.