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Variant (rsID / SNP)

rs796052093

COL12A1

rs796052093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,831,103. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL12A1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
6:75831103
Cytoband
6q13
HGVS
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
Allele change
Missense_I1170T

Associated conditions / phenotypes

Bethlem myopathy 2|Ullrich congenital muscular dystrophy 2|Ullrich congenital muscular dystrophy 2|Bethlem myopathy 2

Public references

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