Variant (rsID / SNP)

rs56040400

rs56040400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C5. Location: chromosome 9, position 123,759,961. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

C5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:123759961
Cytoband: 9q33.2
HGVS: NM_001735.3(C5):c.2654G>A (p.Arg885His)
Allele change: Missense_R891H

Associated conditions / phenotypes

Eculizumab, poor response to

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.