• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CYB5A (HGNC:2570) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome b5 type A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CYB5
Alias symbols
MCB5
%HI
56.3(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.43(Read more about gnomAD LOEUF score)
Cytoband
18q22.3
Genomic Coordinates
GRCh37/hg19: chr18:71918081-71959198 NCBI Ensembl UCSC
GRCh38/hg38: chr18:74250846-74291963 NCBI Ensembl UCSC
MANE Select Transcript
NM_148923.4 ENST00000340533.9 (Read more about MANE Select)
Function
Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12702
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)