ClinVar

NM_002972.4(SBF1):c.4819C>T (p.Arg1607Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50454736 (on Assembly GRCh38)
• Chr22: 50893165 (on Assembly GRCh37)

Preferred name:

NM_002972.4(SBF1):c.4819C>T (p.Arg1607Trp)

Other names:

p.Arg1607Trp

HGVS:

• NC_000022.11:g.50454736G>A
• NG_041810.1:g.25336C>T
• NM_001365819.1:c.4744C>T
• NM_001410794.1:c.4822C>T
• NM_001410795.1:c.4741C>T
• NM_002972.4:c.4819C>TMANE SELECT
• NM_197971.1:c.4819C>T
• NP_001352748.1:p.Arg1582Trp
• NP_001397723.1:p.Arg1608Trp
• NP_001397724.1:p.Arg1581Trp
• NP_002963.2:p.Arg1607Trp
• NP_932075.1:p.Arg1607Trp
• NC_000022.10:g.50893165G>A
• NM_002972.3:c.4819C>T

This HGVS expression did not pass validation

Protein change:

R1581W

Molecular consequence:

• NM_001365819.1:c.4744C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410794.1:c.4822C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410795.1:c.4741C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002972.4:c.4819C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_197971.1:c.4819C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1