CYB5A

cytochrome b5 type A

Summary

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]

Known Variants20 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1790819	18:71,927,892	T/C	intron variant	—
rs7238987	18:71,928,150	C/T	splice region variant	benign
rs201137874	18:71,928,162	T/C	—	likely benign
rs11877813	18:71,928,198	G/C	—	benign
rs760465035	18:71,930,586	G/A	—	uncertain significance
rs2511891451	18:71,930,601	T/C	—	uncertain significance
rs1555688659	18:71,930,711	T/A	—	likely pathogenic
rs794728010	18:71,930,714	T/C	—	pathogenic
rs146344037	18:71,930,725	G/T	—	benign
rs78542257	18:71,938,029	G/T	intron variant	—
rs79384925	18:71,938,618	C/G	—	—
rs1790861	18:71,945,298	T/C	intron variant	—
rs1790834	18:71,948,257	G/A	intron variant	—
rs1788641	18:71,949,629	A/T	—	—
rs77731706	18:71,956,673	G/A	regulatory region variant	—
rs150530087	18:71,958,971	C/A	—	benign
rs1555691399	18:71,959,030	C/T	—	likely pathogenic
rs1051236	18:71,959,075	G/A	—	benign
rs201644903	18:71,959,086	C/A	—	likely benign
rs75160992	18:71,959,098	A/C	—	conflicting classifications of pathogenicity

Gene information from NCBI Gene. Variant classifications from ClinVar.