ClinVar

NM_002972.4(SBF1):c.5596C>T (p.Arg1866Cys)

Gene:

SBF1:SET binding factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50447228 (on Assembly GRCh38)
• Chr22: 50885657 (on Assembly GRCh37)

Preferred name:

NM_002972.4(SBF1):c.5596C>T (p.Arg1866Cys)

HGVS:

• NC_000022.11:g.50447228G>A
• NG_041810.1:g.32844C>T
• NM_001365819.1:c.5521C>T
• NM_001410794.1:c.5599C>T
• NM_001410795.1:c.5518C>T
• NM_002972.2:c.5596C>T
• NM_002972.4:c.5596C>TMANE SELECT
• NM_197971.1:c.5596C>T
• NP_001352748.1:p.Arg1841Cys
• NP_001397723.1:p.Arg1867Cys
• NP_001397724.1:p.Arg1840Cys
• NP_002963.2:p.Arg1866Cys
• NP_932075.1:p.Arg1866Cys
• NC_000022.10:g.50885657G>A

This HGVS expression did not pass validation

Protein change:

R1840C

Molecular consequence:

• NM_001365819.1:c.5521C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410794.1:c.5599C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410795.1:c.5518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002972.4:c.5596C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_197971.1:c.5596C>T - missense variant - [Sequence Ontology: SO:0001583]