RGD:11615380 Rat Genome Database

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Variant: RGD:11615380 -  Homo sapiens

RGD ID: 11615380
RS ID: rs12595334
ClinVar ID: CV339769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 67,485,156
GRCh38 15 67,192,818
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.131962C>T
NC_000015.10:g.67192818C>T
NC_000015.9:g.67485156C>T
NM_001145102.2:c.*2282C>T
More... 		07/15/2020 3 prime utr variant benign ANEURYSMS-OSTEOARTHRITIS SYNDROME; 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_001145104
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407011
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:3UTRS;EXON

Gene Symbol:MADH3
Accession:NM_005902
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:3UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000285382 CLINVAR
  RCV000400652 CLINVAR
  RCV001660655 CLINVAR
dbSNP (RS) rs12595334 CLINVAR
MedGen C3151087 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
NCBI Gene SMAD3 CLINVAR
OMIM 603109 CLINVAR
  613795 CLINVAR