Variant (rsID / SNP)

rs112534524

rs112534524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFI. Location: chromosome 4, position 110,681,527. Clinical significance in the table: Likely benign.

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Reference-table entries

CFILikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:110681527
Cytoband: 4q25
HGVS: NM_000204.5(CFI):c.782G>A (p.Gly261Asp)
Allele change: Missense_G261D

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome with I factor anomaly|Chronic kidney disease

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.