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Variant (rsID / SNP)

rs111391222

COL3A1

rs111391222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,851,842. 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
2:189851842
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
Allele change
Missense_L169F

Associated conditions / phenotypes

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

Public references

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