Variant (rsID / SNP)

rs423490

rs423490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C3. Location: chromosome 19, position 6,697,406. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

C3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:6697406
Cytoband: 19p13.3
HGVS: NM_000064.4(C3):c.2745T>C (p.Ala915=)
Allele change: Synonymous_A915A

Associated conditions / phenotypes

Complement component 3 deficiency|Atypical hemolytic-uremic syndrome with C3 anomaly|Age related macular degeneration 9

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.