ClinVar

NM_004364.5(CEBPA):c.1047C>T (p.Ser349=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

• Chr19: 33301368 (on Assembly GRCh38)
• Chr19: 33792274 (on Assembly GRCh37)

Preferred name:

NM_004364.5(CEBPA):c.1047C>T (p.Ser349=)

HGVS:

• NC_000019.10:g.33301368G>A
• NG_012022.1:g.6157C>T
• NM_001285829.2:c.690C>T
• NM_001287424.2:c.1152C>T
• NM_001287435.2:c.1005C>T
• NM_004364.5:c.1047C>TMANE SELECT
• NP_001272758.1:p.Ser230=
• NP_001274353.1:p.Ser384=
• NP_001274364.1:p.Ser335=
• NP_004355.2:p.Ser349=
• NP_004355.2:p.Ser349=
• LRG_456t1:c.1047C>T
• LRG_456:g.6157C>T
• LRG_456p1:p.Ser349=
• NC_000019.9:g.33792274G>A
• NM_004364.3:c.1047C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001285829.2:c.690C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287424.2:c.1152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287435.2:c.1005C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004364.5:c.1047C>T - synonymous variant - [Sequence Ontology: SO:0001819]