Variant (rsID / SNP)

rs1131296

rs1131296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL6A3. Location: chromosome 2, position 238,243,292. Clinical significance in the table: Benign.

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Reference-table entries

COL6A3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:238243292
Cytoband: 2q37.3
HGVS: NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile)
Allele change: Missense_T2462I

Associated conditions / phenotypes

Collagen 6-related myopathy|Bethlem myopathy 1|Ullrich congenital muscular dystrophy 1|Dystonia 27

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.