RGD:26923514 Rat Genome Database

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Variant: RGD:26923514 -  Homo sapiens

RGD ID: 26923514
RS ID: rs1388478228
ClinVar ID: CV847508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEBPA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 33,792,879
GRCh38 19 33,301,973
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287424.2:c.547G>T
LRG_456:g.5552G>T
NG_012022.1:g.5552G>T
NC_000019.10:g.33301973C>A
More... 		07/14/2023 nonsense pathogenic|likely pathogenic 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CEBPA
Accession:NM_001287435
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAA
VGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLY*RVGAPALRPLVIKQEPREEDEAKQLA
LAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALK
GLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRE
LDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:CEBPA
Accession:NM_004364
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLAD
LFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLY*RVGAPALRPLVI
KQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPA
LGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSD
NDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:CEBPA
Accession:NM_001287424
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VRGRGRAGSPGGRRRRPAQAGGRRGSPCRENSNSPMESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAP
PAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAH
GPPPGYGCAAAGYLDGRLEPLY*RVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPH
LQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEY
RVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:CEBPA
Accession:NM_001285829
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGAHGPPPGYGCAAAGYLDGRLEPLY*RVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPA
HLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVD
KNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*
Variant Samples
Additional References at PubMed
PMID:26721895   PMID:28492532   PMID:29296967   PMID:33345654  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001064133 CLINVAR
dbSNP (RS) rs1388478228 CLINVAR
MedGen C0023467 CLINVAR
NCBI Gene CEBPA CLINVAR
OMIM 116897 CLINVAR
  601626 CLINVAR
SNOMED CT 17788007 CLINVAR