Variant (rsID / SNP)

rs121912927

rs121912927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,855,034. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

COL3A1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:189855034
Cytoband: 2q32.2
HGVS: NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)
Allele change: Missense_G249D

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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