Variant (rsID / SNP)

rs180718181

rs180718181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,852,997. 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: 6:75852997
Cytoband: 6q13
HGVS: NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)
Allele change: Missense_Y436H

Associated conditions / phenotypes

Ullrich congenital muscular dystrophy 2|Bethlem myopathy 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.