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Variant (rsID / SNP)

rs61733901

CFI

rs61733901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFI. Location: chromosome 4, position 110,667,561. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CFIConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:110667561
Cytoband
4q25
HGVS
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)
Allele change
Missense_I424L

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome with I factor anomaly

Public references

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