RGD:13613800 Rat Genome Database

Variant: RGD:13613800 - Homo sapiens

RGD ID:

13613800

RS ID:

rs780335632

ClinVar ID:

CV532851

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CEBPA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	33,792,518
GRCh38	19	33,301,612

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_012022.1:g.5913G>T NC_000019.10:g.33301612C>A LRG_456:g.5913G>T NP_004355.2:p.Gly268Val More...	05/04/2023	missense variant	uncertain significance	Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML adult; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic

Disease Annotations Click to see Annotation Detail View

acute myeloid leukemia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Acute myeloid leukemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CEBPA
Accession:	NM_001287435
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAA VGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLA LAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALK GLGAAHPDLRASGVSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRE LDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:	CEBPA
Accession:	NM_004364
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	268

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLAD LFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVI KQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPA LGAAGLPGPGSALKGLGAAHPDLRASGVSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSD NDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:	CEBPA
Accession:	NM_001287424
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
VRGRGRAGSPGGRRRRPAQAGGRRGSPCRENSNSPMESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAP PAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAH GPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPH LQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGVSGAGKAKKSVDKNSNEY RVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:	CEBPA
Accession:	NM_001285829
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	149

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPA HLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGVSGAGKAKKSVD KNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000631425	CLINVAR
dbSNP (RS)	rs780335632	CLINVAR
MedGen	C0023467	CLINVAR
NCBI Gene	CEBPA	CLINVAR
OMIM	116897	CLINVAR
	601626	CLINVAR
SNOMED CT	17788007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13613800 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13613800 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar