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Variant (rsID / SNP)

rs41263775

COL3A1

rs41263775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,864,044. 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
2:189864044
Cytoband
2q32.2
HGVS
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
Allele change
Missense_P686A

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, type 4|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.