RGD:11639930 Rat Genome Database

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Variant: RGD:11639930 -  Homo sapiens

RGD ID: 11639930
RS ID: rs770457783
ClinVar ID: CV268030
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130057352  SMAD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 67,358,492
GRCh38 15 67,066,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011990.1:g.5298C>T
NC_000015.10:g.67066154C>T
NC_000015.9:g.67358492C>T
NM_005902.4:c.-1C>T
More... 		02/09/2021 5 prime utr variant uncertain significance none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MADH3
Accession:NM_005902
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001145104
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30739908  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000329392 CLINVAR
  RCV001184772 CLINVAR
dbSNP (RS) rs770457783 CLINVAR
MedGen C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene LOC130057352 CLINVAR
  SMAD3 CLINVAR
OMIM 603109 CLINVAR