Variant (rsID / SNP)
rs111840783
rs111840783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL3A1. Location: chromosome 2, position 189,875,018. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
COL3A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:189875018
- Cytoband
- 2q32.2
- HGVS
- NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
- Allele change
- Missense_K1313R
Associated conditions / phenotypes
Ehlers-Danlos syndrome, type 4|Loeys-Dietz syndrome|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome|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.