RGD:34893923 Rat Genome Database

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Variant: RGD:34893923 -  Homo sapiens

RGD ID: 34893923
RS ID: rs768529580
ClinVar ID: CV916352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 67,477,053
GRCh38 15 67,184,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145102.2:c.557-12G>C
NM_001145103.2:c.740-12G>C
NG_011990.1:g.123859G>C
NC_000015.10:g.67184715G>C
More... 		06/18/2023 intron variant likely benign|uncertain significance AllHighlyPenetrant; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:SMAD3
Accession:NM_001145104
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:INTRON

Gene Symbol:MADH3
Accession:NM_005902
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001176940 CLINVAR
  RCV003317440 CLINVAR
dbSNP (RS) rs768529580 CLINVAR
MedGen C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR