RGD:11550916 Rat Genome Database

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Variant: RGD:11550916 -  Homo sapiens

RGD ID: 11550916
RS ID: rs34057105
ClinVar ID: CV251063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 189,612,336
GRCh38 3 189,894,547
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.12:g.189894547C>T
NC_000003.11:g.189612336C>T
NM_001329964.2:c.*45C>T
NM_001329149.2:c.*316C>T
More... 		01/13/2018 3 prime utr variant benign AllHighlyPenetrant; Cleft lip with or without cleft palate, nonsyndromic, 8; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Type 3 (EEC3); EEC SYNDROME 3; none provided

Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_001114981
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329149
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329144
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329148
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329150
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_003722
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001114978
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001114980
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329964
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329145
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001329146
Location:3UTRS;EXON

Gene Symbol:TP63
Accession:NM_001114979
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114982
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252369 CLINVAR
  RCV000293324 CLINVAR
  RCV000348286 CLINVAR
  RCV000375399 CLINVAR
  RCV001711695 CLINVAR
dbSNP (RS) rs34057105 CLINVAR
MedGen C1851878 CLINVAR
  C1858562 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239305 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 603273 CLINVAR
  604292 CLINVAR
  618149 CLINVAR