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Variant (rsID / SNP)

rs777361888

COL3A1

rs777361888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,867,725. 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
2:189867725
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
Allele change
Synonymous_P830P

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.