RGD:13813253 Rat Genome Database

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Variant: RGD:13813253 -  Homo sapiens

RGD ID: 13813253
RS ID: rs757772685
ClinVar ID: CV569586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 67,457,230
GRCh38 15 67,164,892
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.104036C>A
NC_000015.10:g.67164892C>A
NC_000015.9:g.67457230C>A
NM_005902.4:c.207-3C>A
More... 		01/29/2020 intron variant uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD3
Accession:NM_001145102
Location:5UTRS;INTRON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:5UTRS;INTRON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:5UTRS;INTRON

Gene Symbol:MADH3
Accession:NM_005902
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145104
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000704236 CLINVAR
dbSNP (RS) rs757772685 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR