ClinVar

NM_016229.5(CYB5R2):c.581G>A (p.Arg194Lys)

Genes:

PPFIBP2:PPFIA binding protein 2 [Gene - OMIM - HGNC]
CYB5R2:cytochrome b5 reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 7666528 (on Assembly GRCh38)
• Chr11: 7687759 (on Assembly GRCh37)

Preferred name:

NM_016229.5(CYB5R2):c.581G>A (p.Arg194Lys)

HGVS:

• NC_000011.10:g.7666528C>T
• NM_001302826.2:c.581G>A
• NM_001302827.1:c.577G>A
• NM_016229.5:c.581G>AMANE SELECT
• NP_001289755.1:p.Arg194Lys
• NP_001289756.1:p.Glu193Lys
• NP_057313.2:p.Arg194Lys
• NC_000011.9:g.7687759C>T
• NM_016229.3:c.581G>A
• NR_126508.2:n.729G>A

This HGVS expression did not pass validation

Protein change:

E193K

Molecular consequence:

• NM_001302826.2:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302827.1:c.577G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016229.5:c.581G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_126508.2:n.729G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]