ClinVar

NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)

Gene:

SPOP:speckle type BTB/POZ protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

• Chr17: 49619068 (on Assembly GRCh38)
• Chr17: 47696430 (on Assembly GRCh37)

Preferred name:

NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)

HGVS:

• NC_000017.11:g.49619068C>A
• NG_041815.1:g.64096G>T
• NM_001007226.1:c.393G>T
• NM_001007227.1:c.393G>T
• NM_001007228.2:c.393G>TMANE SELECT
• NM_001007229.1:c.393G>T
• NM_001007230.1:c.393G>T
• NM_001370730.1:c.393G>T
• NM_001370731.1:c.393G>T
• NM_001370732.1:c.393G>T
• NM_003563.3:c.393G>T
• NP_001007227.1:p.Trp131Cys
• NP_001007228.1:p.Trp131Cys
• NP_001007229.1:p.Trp131Cys
• NP_001007230.1:p.Trp131Cys
• NP_001007231.1:p.Trp131Cys
• NP_001357659.1:p.Trp131Cys
• NP_001357660.1:p.Trp131Cys
• NP_001357661.1:p.Trp131Cys
• NP_003554.1:p.Trp131Cys
• LRG_1412t1:c.393G>T
• LRG_1412:g.64096G>T
• LRG_1412p1:p.Trp131Cys
• NC_000017.10:g.47696430C>A

This HGVS expression did not pass validation

Protein change:

W131C

Links:

dbSNP: rs1057519970

NCBI 1000 Genomes Browser:

rs1057519970

Molecular consequence:

• NM_001007226.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007227.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007228.2:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007229.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007230.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370730.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370731.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370732.1:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003563.3:c.393G>T - missense variant - [Sequence Ontology: SO:0001583]