Variant (rsID / SNP)

rs111803773

rs111803773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,253,261. 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: 2:238253261
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu)
Allele change: Missense_S1860L

Associated conditions / phenotypes

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.