Variant (rsID / SNP)

rs1393544920

rs1393544920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,854,843. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

COL3A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:189854843
Cytoband: 2q32.2
HGVS: NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
Allele change: Nonsense_R238X

Associated conditions / phenotypes

Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 4

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.