BLVRA Chromosome 7
Biliverdin reductase A
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What This Gene Does
The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Gfo/Idh/MocA-like oxidoreductase domain containing
Locus Type
gene with protein product
Location
7p13
Ensembl
ENSG00000106605
Associated Conditions (1)
Hyperbiliverdinemia
Key Variants
RS138636653
Conflicting classifications of pathogenicity
Health Risk
RS140584840
Conflicting classifications of pathogenicity
Health Risk
RS142693095
Conflicting classifications of pathogenicity
Health Risk
RS747902950
Likely pathogenic
Hyperbiliverdinemia, Hyperbiliverdinemia
Health Risk
RS387906595
Pathogenic
Hyperbiliverdinemia, Hyperbiliverdinemia
Health Risk
RS387906596
Pathogenic
Hyperbiliverdinemia, Hyperbiliverdinemia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138636653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140584840 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142693095 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747902950 | Health Risk | Likely pathogenic | Hyperbiliverdinemia, Hyperbiliverdinemia |
| RS387906595 | Health Risk | Pathogenic | Hyperbiliverdinemia, Hyperbiliverdinemia |
| RS387906596 | Health Risk | Pathogenic | Hyperbiliverdinemia, Hyperbiliverdinemia |