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Variant (rsID / SNP)

rs374452484

COL3A1

rs374452484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,873,750. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

COL3A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:189873750
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
Allele change
Missense_G1209A

Associated conditions / phenotypes

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

Public references

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