RGD:152050804 Rat Genome Database

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Variant: RGD:152050804 -  Homo sapiens

RGD ID: 152050804
RS ID: rs763128484
ClinVar ID: CV1533310
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 189,590,644
GRCh38 3 189,872,855
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_428t1:c.1213-4A>G
NM_001329148.2:c.1201-4A>G
NM_001329964.2:c.1207-4A>G
NM_001114978.2:c.1213-4A>G
More...
08/14/2023 intron variant benign|likely benign

Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_001114982
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329145
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114981
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329146
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329144
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329149
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114980
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329964
Location:INTRON

Gene Symbol:TP63
Accession:NM_003722
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329148
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114979
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329150
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114978
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV002166855 CLINVAR
  RCV003968716 CLINVAR
dbSNP (RS) rs763128484 CLINVAR
MedGen CN239305 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 603273 CLINVAR