RGD:13467523 Rat Genome Database

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Variant: RGD:13467523 -  Homo sapiens

RGD ID: 13467523
RS ID: rs1455462308
ClinVar ID: CV470031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEBPA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 33,793,017
GRCh38 19 33,302,111
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_456:g.5414G>A
NP_004355.2:p.Gly102Ser
NM_001287424.2:c.409G>A
NP_001274353.1:p.Gly137Ser
More... 		09/13/2023 5 prime utr variant|missense variant uncertain significance Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML adult; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
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_001285829
Location:5UTRS;EXON

Gene Symbol:CEBPA
Accession:NM_001287424
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VRGRGRAGSPGGRRRRPAQAGGRRGSPCRENSNSPMESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAP
PAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAAVGPTGGGSGGDFDYPGAPAGPGGAVMPGGAH
GPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPH
LQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEY
RVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:CEBPA
Accession:NM_001287435
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLADLFQHSRQQEKAKAA
VGPTGGGSGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVIKQEPREEDEAKQLA
LAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPALGAAGLPGPGSALK
GLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSDNDRLRKRVEQLSRE
LDTLRGIFRQLPESSLVKAMGNCA*

Gene Symbol:CEBPA
Accession:NM_004364
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESADFYEAEPRPPMSSHLQSPPHAPSSAAFGFPRGAGPAQPPAPPAAPEPLGGICEHETSIDISAYIDPAAFNDEFLAD
LFQHSRQQEKAKAAVGPTGGGSGGDFDYPGAPAGPGGAVMPGGAHGPPPGYGCAAAGYLDGRLEPLYERVGAPALRPLVI
KQEPREEDEAKQLALAGLFPYQPPPPPPPSHPHPHPPPAHLAAPHLQFQIAHCGQTTMHLQPGHPTPPPTPVPSPHPAPA
LGAAGLPGPGSALKGLGAAHPDLRASGGSGAGKAKKSVDKNSNEYRVRRERNNIAVRKSRDKAKQRNVETQQKVLELTSD
NDRLRKRVEQLSRELDTLRGIFRQLPESSLVKAMGNCA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000554862 CLINVAR
  RCV002257787 CLINVAR
  RCV003329293 CLINVAR
dbSNP (RS) rs1455462308 CLINVAR
MedGen C0023467 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene CEBPA CLINVAR
OMIM 116897 CLINVAR
  601626 CLINVAR
SNOMED CT 17788007 CLINVAR
  699346009 CLINVAR