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Variant (rsID / SNP)

rs142243595

C2CFB

rs142243595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,911,055. 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
6:31911055
Cytoband
6p21.33
HGVS
NM_000063.6(C2):c.1414G>A (p.Ala472Thr)
Allele change
Missense_A226T

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome|Complement component 2 deficiency|Macular degeneration|Age related macular degeneration 14

Public references

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