Variant (rsID / SNP)

rs34369939

rs34369939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL12A1. Location: chromosome 6, position 75,814,950. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL12A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:75814950
Cytoband: 6q13
HGVS: NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)
Allele change: Missense_V1582A

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.