RGD:13469927 Rat Genome Database

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Variant: RGD:13469927 -  Homo sapiens

RGD ID: 13469927
RS ID: rs1555414506
ClinVar ID: CV464477
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 67,482,874
GRCh38 15 67,190,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_005893.1:p.Ter426Tyr
NG_011990.1:g.129680G>C
NC_000015.10:g.67190536G>C
NP_001138575.1:p.Ter382Tyr
More... 		03/10/2017 stop lost uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD3
Accession:NM_001407015
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001145104
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:EXON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:EXON

Gene Symbol:MADH3
Accession:NM_005902
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000545755 CLINVAR
dbSNP (RS) rs1555414506 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR