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Variant (rsID / SNP)

rs139619440

COL3A1

rs139619440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,870,953. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

COL3A1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:189870953
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
Allele change
Missense_L1021I

Associated conditions / phenotypes

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

Public references

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