RGD:151804271 Rat Genome Database

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Variant: RGD:151804271 -  Homo sapiens

RGD ID: 151804271
RS ID: rs576449010
ClinVar ID: CV1362818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 189,586,505
GRCh38 3 189,868,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_428t1:c.1129C>T
NM_001329148.2:c.1117+12C>T
NM_001329964.2:c.1123C>T
NM_001114978.2:c.1129C>T
More...
08/24/2021 intron variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_001329145
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329964
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329148
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114980
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329150
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114978
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_001114982
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114979
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329149
Location:INTRON

Gene Symbol:TP63
Accession:NM_003722
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002028380 CLINVAR
dbSNP (RS) rs576449010 CLINVAR
MedGen CN239305 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 603273 CLINVAR