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Variant (rsID / SNP)

rs144614075

COL3A1

rs144614075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,873,942. 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
2:189873942
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
Allele change
Missense_K1273R

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Ehlers-Danlos syndrome, type 3|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome, type 4

Public references

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