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Variant (rsID / SNP)

rs560861999

COL3A1

rs560861999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,875,046. 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
2:189875046
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=)
Allele change
Missense_E1322D

Associated conditions / phenotypes

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.