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Variant (rsID / SNP)

rs779774302

COL3A1

rs779774302 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,875,448. 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
2:189875448
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
Allele change
Synonymous_S1362S

Associated conditions / phenotypes

Cardiovascular phenotype|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.