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Variant (rsID / SNP)

rs2072634

C2CFB

rs2072634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C2, CFB. Location: chromosome 6, position 31,917,291. 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
6:31917291
Cytoband
6p21.33
HGVS
NM_001710.6(CFB):c.1365C>T (p.Val455=)
Allele change
Synonymous_V455V

Associated conditions / phenotypes

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

Public references

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