Variant (rsID / SNP)
rs2230210
rs2230210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C3. Location: chromosome 19, position 6,678,030. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
C3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:6678030
- Cytoband
- 19p13.3
- HGVS
- NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
- Allele change
- Missense_S1619R
Associated conditions / phenotypes
Age related macular degeneration 9|Complement component 3 deficiency|Atypical hemolytic-uremic syndrome with C3 anomaly|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.