RGD:12738820 Rat Genome Database

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Variant: RGD:12738820 -  Homo sapiens

RGD ID: 12738820
RS ID: rs184743157
ClinVar ID: CV358967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP53  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 7,579,825
GRCh38 17 7,676,507
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_321t1:c.74+14T>C
LRG_321:g.16044T>C
NG_017013.2:g.16044T>C
NC_000017.11:g.7676507A>G
More... 		06/18/2022 2kb upstream variant|5 prime utr variant benign|likely benign all ages 1-9 / 100 000 AllHighlyPenetrant; Cancer predisposition; Endometrial carcinoma, somatic; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Sarcoma family syndrome of Li and Fraumeni; 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:TP53
Accession:NM_001126118
Location:5UTRS;EXON

Gene Symbol:TP53
Accession:NM_001407271
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001276761
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001276695
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001407263
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001276760
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001407269
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001407265
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001407267
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_001276696
Location:5UTRS;INTRON

Gene Symbol:TP53
Accession:NM_000546
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407264
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407266
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126115
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276698
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407262
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276699
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407268
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276697
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126114
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126117
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126112
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126113
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126116
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407270
Location:INTRON

Gene Symbol:TP53
Accession:NR_176326
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000409573 CLINVAR
  RCV000581581 CLINVAR
  RCV000679372 CLINVAR
  RCV001357552 CLINVAR
  RCV001672748 CLINVAR
  RCV002058851 CLINVAR
  RCV003150195 CLINVAR
dbSNP (RS) rs184743157 CLINVAR
MedGen C0027672 CLINVAR
  C0085390 CLINVAR
  C0476089 CLINVAR
  C1835398 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN221562 CLINVAR
NCBI Gene TP53 CLINVAR
OMIM 151623 CLINVAR
  191170 CLINVAR
  608089 CLINVAR
SNOMED CT 254878006 CLINVAR
  428850001 CLINVAR
  699346009 CLINVAR