RGD:14698248 Rat Genome Database

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Variant: RGD:14698248 -  Homo sapiens

RGD ID: 14698248
RS ID: rs1597359053
ClinVar ID: CV623208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP53  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 7,576,851
GRCh38 17 7,673,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017013.2:g.19018T>G
NC_000017.11:g.7673533A>C
NC_000017.10:g.7576851A>C
LRG_321t1:c.993+2T>G
More... 		05/04/2022 splice donor variant likely pathogenic|not provided Breast cancer, familial; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TP53
Accession:NM_001276697
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276699
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407270
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407268
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126112
Location:INTRON

Gene Symbol:TP53
Accession:NM_000546
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407265
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407267
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126116
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407269
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407263
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126117
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276696
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407262
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126115
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126118
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276760
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276695
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276698
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126113
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407271
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407264
Location:INTRON

Gene Symbol:TP53
Accession:NM_001407266
Location:INTRON

Gene Symbol:TP53
Accession:NM_001126114
Location:INTRON

Gene Symbol:TP53
Accession:NM_001276761
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000786814 CLINVAR
  RCV002249485 CLINVAR
  RCV002386367 CLINVAR
dbSNP (RS) rs1597359053 CLINVAR
MedGen C0027672 CLINVAR
  C0346153 CLINVAR
  C3661900 CLINVAR
NCBI Gene TP53 CLINVAR
OMIM 114480 CLINVAR
  191170 CLINVAR
SNOMED CT 254843006 CLINVAR
  699346009 CLINVAR