Variant (rsID / SNP)

rs132630261

rs132630261 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFP. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001145252.3(CFP):c.1240T>G (p.Tyr414Asp)
Allele change: Missense_Y414H

Associated conditions / phenotypes

Properdin deficiency, type III

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.