Variant (rsID / SNP)
rs2230205
rs2230205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C3. Location: chromosome 19, position 6,709,704. Clinical significance in the table: Benign.
Reference-table entries
C3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:6709704
- Cytoband
- 19p13.3
- HGVS
- NM_000064.4(C3):c.1836G>A (p.Thr612=)
- Allele change
- Synonymous_T612T
Associated conditions / phenotypes
Atypical hemolytic-uremic syndrome with C3 anomaly|Age related macular degeneration 9|Complement component 3 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.