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Variant (rsID / SNP)

rs794727586

COL3A1

rs794727586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,867,785. 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
2:189867785
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
Allele change
Synonymous_P850P

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.