RGD:405215526 Rat Genome Database

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Variant: RGD:405215526 -  Homo sapiens

RGD ID: 405215526
ClinVar ID: CV3143272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 45,394,842
GRCh38 18 47,868,471
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001135937.3:c.431-14T>G
NM_001003652.4:c.521-14T>G
NM_005901.6:c.521-14T>G
NG_029946.2:g.67401T>G
More... 		12/25/2023 intron variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:SMAD2
Accession:NM_001135937
Location:INTRON

Gene Symbol:SMAD2
Accession:NM_001003652
Location:INTRON

Gene Symbol:MADH2
Accession:NM_005901
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_017025749
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_047437508
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_047437507
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003846435 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR