rs1051236
This variant is located in the CYB5A gene.
▶ClinVar annotation
About CYB5A
The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
View all CYB5A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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