ClinVar

NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)

Gene:

CEBPA:CCAAT enhancer binding protein alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 33301406 (on Assembly GRCh38)
• Chr19: 33792312 (on Assembly GRCh37)

Preferred name:

NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)

HGVS:

• NC_000019.10:g.33301406T>A
• NG_012022.1:g.6119A>T
• NM_001285829.2:c.652A>T
• NM_001287424.2:c.1114A>T
• NM_001287435.2:c.967A>T
• NM_004364.5:c.1009A>TMANE SELECT
• NP_001272758.1:p.Thr218Ser
• NP_001274353.1:p.Thr372Ser
• NP_001274364.1:p.Thr323Ser
• NP_004355.2:p.Thr337Ser
• NP_004355.2:p.Thr337Ser
• LRG_456t1:c.1009A>T
• LRG_456:g.6119A>T
• NC_000019.9:g.33792312T>A
• NM_004364.3:c.1009A>T
• NM_004364.4:c.1009A>T

This HGVS expression did not pass validation

Protein change:

T218S

Links:

dbSNP: rs587778192

NCBI 1000 Genomes Browser:

rs587778192

Molecular consequence:

• NM_001285829.2:c.652A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287424.2:c.1114A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287435.2:c.967A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004364.5:c.1009A>T - missense variant - [Sequence Ontology: SO:0001583]