Variant (rsID / SNP)

rs121913056

rs121913056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFH. Location: chromosome 1, position 196,659,324. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFHPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:196659324
Cytoband: 1q31.3
HGVS: NM_000186.4(CFH):c.1291T>A (p.Cys431Ser)
Allele change: Missense_C431S

Associated conditions / phenotypes

Factor H deficiency

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.