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Variant (rsID / SNP)

rs186328815

COL12A1

rs186328815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,811,764. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL12A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:75811764
Cytoband
6q13
HGVS
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
Allele change
Missense_R1643H

Associated conditions / phenotypes

Bethlem myopathy 2|Ullrich congenital muscular dystrophy 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.