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Variant (rsID / SNP)

rs1801184

COL3A1

rs1801184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,864,582. Clinical significance in the table: Benign.

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Reference-table entries

COL3A1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:189864582
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=)
Allele change
Synonymous_G748G

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Polymicrogyria with or without vascular-type ehlers-danlos syndrome

Public references

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