RGD:152057913 Rat Genome Database

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Variant: RGD:152057913 -  Homo sapiens

RGD ID: 152057913
RS ID: rs2145265134
ClinVar ID: CV1654368
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEBPA  LOC130064183  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 33,793,312
GRCh38 19 33,302,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004355.2:p.Ser3=
NP_001274353.1:p.Ser38=
LRG_456:g.5119G>C
NG_012022.1:g.5119G>C
More... 		06/04/2021 5 prime utr variant|synonymous variant likely benign 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:5UTRS;EXON

Gene Symbol:CEBPA
Accession:NM_001285829
Location:5UTRS;EXON

Gene Symbol:CEBPA
Accession:NM_004364
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLAD
LFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVI
KQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPA
LGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSD
NDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:CEBPA
Accession:NM_001287424
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VRGRGRAGSPGGRRRRPAQAGGRRGSPCRENSNSPMESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAP
PAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGGGGDFDYPGAPAGPGGAVMPGGAH
GPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPH
LQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEY
RVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002191010 CLINVAR
dbSNP (RS) rs2145265134 CLINVAR
MedGen C0023467 CLINVAR
NCBI Gene CEBPA CLINVAR
  LOC130064183 CLINVAR
OMIM 116897 CLINVAR
  601626 CLINVAR
SNOMED CT 17788007 CLINVAR