Variant (rsID / SNP)

rs970547

rs970547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,797,302. Clinical significance in the table: Benign.

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Reference-table entries

COL12A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:75797302
Cytoband: 6q13
HGVS: NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)
Allele change: Missense_G1894S

Associated conditions / phenotypes

Ullrich congenital muscular dystrophy 2|Bethlem myopathy 2|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.