Variant (rsID / SNP)
rs143859495
rs143859495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL5A1. Location: chromosome 9, position 137,727,030. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL5A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:137727030
- Cytoband
- 9q34.3
- HGVS
- NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
- Allele change
- Missense_A1784T
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.