rs777303695 Rat Genome Database

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Variant: rs777303695 -  Homo sapiens

RGD ID: 34890947
RS ID: rs777303695
ClinVar ID: CV913102
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130057352  SMAD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 67,358,483
GRCh38 15 67,066,145
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.67358483C>T
NM_005902.4:c.-10C>T
NG_011990.1:g.5289C>T
NC_000015.10:g.67066145C>T
More... 		11/08/2022 5 prime utr variant uncertain significance ED syndrome; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMAD3
Accession:NM_001407011
Location:5UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407012
Location:5UTRS;EXON

Gene Symbol:MADH3
Accession:NM_005902
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001407013
Location:5UTRS;EXON

Gene Symbol:SMAD3
Accession:NM_001145104
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407016
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407017
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145102
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001145103
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407015
Location:INTRON

Gene Symbol:SMAD3
Accession:NM_001407014
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001182314 CLINVAR
  RCV002276654 CLINVAR
dbSNP (RS) rs777303695 CLINVAR
MedGen C0013720 CLINVAR
  C4707243 CLINVAR
NCBI Gene LOC130057352 CLINVAR
  SMAD3 CLINVAR
OMIM 603109 CLINVAR
SNOMED CT 398114001 CLINVAR