rs745672741 Rat Genome Database

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Variant: rs745672741 -  Homo sapiens

RGD ID: 10410966
RS ID: rs745672741
ClinVar ID: CV210264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 67,457,585
GRCh38 15 67,165,247
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.104391G>A
NC_000015.10:g.67165247G>A
NC_000015.9:g.67457585G>A
NM_005902.3:c.401-6G>A
More... 		05/13/2023 intron variant pathogenic|likely pathogenic|uncertain significance ANEURYSMS-OSTEOARTHRITIS SYNDROME; Connective tissue disease; Loeys-Dietz syndrome 3; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome, type 1C; none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD3
Accession:NM_001407013
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:INTRON

Gene Symbol:MADH3
Accession:NM_005902
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145104
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25644172   PMID:25741868   PMID:25877775   PMID:28492532   PMID:30661052   PMID:30739908  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000660268 CLINVAR
  RCV000702020 CLINVAR
  RCV001723768 CLINVAR
  RCV002492898 CLINVAR
dbSNP (RS) rs745672741 CLINVAR
MedGen C0009782 CLINVAR
  C3151087 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR
  613795 CLINVAR