CFHR2 Chromosome 1
Complement factor H related 2
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What This Gene Does
This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000080910
Key Variants
RS148175483
Conflicting classifications of pathogenicity
Health Risk
RS370528458
Conflicting classifications of pathogenicity
Health Risk
RS372833461
Conflicting classifications of pathogenicity
Health Risk
RS375905519
Conflicting classifications of pathogenicity
Health Risk
RS558048038
Conflicting classifications of pathogenicity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148175483 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370528458 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372833461 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375905519 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS558048038 | Health Risk | Conflicting classifications of pathogenicity | — |