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Variant (rsID / SNP)

rs45600936

C2CFB

rs45600936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,916,707. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

C2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:31916707
Cytoband
6p21.33
HGVS
NM_001710.6(CFB):c.1137C>T (p.Arg379=)
Allele change
Synonymous_R379R

Associated conditions / phenotypes

Macular degeneration|Complement component 2 deficiency|Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome with B factor anomaly

Public references

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