RGD:151810559 Rat Genome Database

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Variant: RGD:151810559 -  Homo sapiens

RGD ID: 151810559
RS ID: rs200703504
ClinVar ID: CV1497405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 189,584,605
GRCh38 3 189,866,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_428t1:c.882+19A>T
NM_001329146.2:c.345+19A>T
NM_001329150.2:c.345+19A>T
NM_001114980.2:c.600+19A>T
More... 		06/25/2021 intron variant likely benign Acro-dermato-ungual-lacrimal-tooth syndrome; AEC syndrome; Ankyloblepharon-ectodermal defects, cleft lip/palate; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome; Cleft lip with or without cleft palate, nonsyndromic, 8; Ectodermal dysplasia, anhidrotic, with cleft lip/palate; Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3; 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; Hay-Wells syndrome; Hay-Wells syndrome of ectodermal dysplasia; Limb-mammary syndrome; Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies; Orofacial cleft 8; Rapp-Hodgkin ectodermal dysplasia syndrome; Rapp-Hodgkin syndrome; Split hand-foot malformation 4; Split-hand/foot malformation 4; Split-Hand/Foot Malformation Type 4 (SHFM4 syndrome)

Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_001114979
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114982
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329964
Location:INTRON

Gene Symbol:TP63
Accession:NM_003722
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329150
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329145
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329146
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114978
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114981
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329144
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329148
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114980
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329149
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001974726 CLINVAR
  RCV002503666 CLINVAR
dbSNP (RS) rs200703504 CLINVAR
MedGen C1863204 CLINVAR
  CN239305 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 103285 CLINVAR
  106260 CLINVAR
  129400 CLINVAR
  603273 CLINVAR
  603543 CLINVAR
  604292 CLINVAR
  605289 CLINVAR
  618149 CLINVAR
SNOMED CT 55821006 CLINVAR