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Variant (rsID / SNP)

rs140225293

C2CFB

rs140225293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,910,877. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

C2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:31910877
Cytoband
6p21.33
HGVS
NM_000063.6(C2):c.1360+1G>A
Allele change
Silent

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome|Macular degeneration|C2-related disorders

Public references

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