Variant (rsID / SNP)

rs201372309

rs201372309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,843,651. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COL12A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:75843651
Cytoband: 6q13
HGVS: NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)
Allele change: Missense_R699C

Associated conditions / phenotypes

Bethlem myopathy 2|Ullrich congenital muscular dystrophy 2

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.