Variant (rsID / SNP)
rs1800255
rs1800255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,864,080. Clinical significance in the table: Benign.
Reference-table entries
COL3A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:189864080
- Cytoband
- 2q32.2
- HGVS
- NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)
- Allele change
- Missense_A698T
Associated conditions / phenotypes
COLLAGEN TYPE III POLYMORPHISM|Cardiovascular phenotype|Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|Polymicrogyria with or without vascular-type ehlers-danlos syndrome|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.