RGD:126917057 Rat Genome Database

Variant: RGD:126917057 - Homo sapiens

RGD ID:

126917057

RS ID:

rs1568419745

ClinVar ID:

CV1051204

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CEBPA

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	19	33,792,731
GRCh38	19	33,301,825

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
NM_004364.5:c.590C>T NM_001287424.2:c.695C>T LRG_456:g.5700C>T NG_012022.1:g.5700C>T More...	01/18/2020	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_004364
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	197

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLAD LFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVI KQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPLPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPA LGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSD NDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:	CEBPA
Accession:	NM_001285829
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPLPA HLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVD KNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:	CEBPA
Accession:	NM_001287424
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	232

Amino Acid Sequence (Calculated using NCBI transcript definition)
VRGRGRAGSPGGRRRRPAQAGGRRGSPCRENSNSPMESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAP PAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAH GPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPLPAHLAAPH LQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEY RVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:	CEBPA
Accession:	NM_001287435
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	183

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAA VGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLA LAGLFPYQPPPPPPPSHPHPHPLPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALK GLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRE LDTLRGIFRQLPESSLVKAMGNCA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001371858	CLINVAR
dbSNP (RS)	rs1568419745	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:126917057 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:126917057 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar