ClinVar

NM_000397.4(CYBB):c.578C>T (p.Ser193Phe)

Gene:

CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

• ChrX: 37796045 (on Assembly GRCh38)
• ChrX: 37655298 (on Assembly GRCh37)

Preferred name:

NM_000397.4(CYBB):c.578C>T (p.Ser193Phe)

HGVS:

• NC_000023.11:g.37796045C>T
• NG_009065.1:g.21025C>T
• NM_000397.4:c.578C>TMANE SELECT
• NP_000388.2:p.Ser193Phe
• NP_000388.2:p.Ser193Phe
• LRG_53t1:c.578C>T
• LRG_53:g.21025C>T
• LRG_53p1:p.Ser193Phe
• NC_000023.10:g.37655298C>T
• NM_000397.3:c.578C>T
• P04839:p.Ser193Phe

This HGVS expression did not pass validation

Protein change:

S193F

Links:

UniProtKB: P04839#VAR_047268; UniProtKB/Swiss-Prot: VAR_047268; dbSNP: rs151344493

NCBI 1000 Genomes Browser:

rs151344493

Molecular consequence:

• NM_000397.4:c.578C>T - missense variant - [Sequence Ontology: SO:0001583]