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Variant (rsID / SNP)

rs4151667

C2CFB

rs4151667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,914,024. 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
6:31914024
Cytoband
6p21.33
HGVS
NM_001710.6(CFB):c.26T>A (p.Leu9His)
Allele change
Missense_L9H

Associated conditions / phenotypes

Age related macular degeneration 14|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.