rs377290715 Rat Genome Database

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Variant: rs377290715 -  Homo sapiens

RGD ID: 150415588
RS ID: rs377290715
ClinVar ID: CV1192063
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 45,375,067
GRCh38 18 47,848,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005901.6:c.785-9C>A
NG_029946.1:g.87449C>A
NC_000018.10:g.47848696G>T
NC_000018.9:g.45375067G>T
More... 		11/26/2023 intron variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; SMAD2-related condition; SMAD2-related disorders
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1192063HumanCONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY  IAGP 8554872ClinVar Annotator: match by term: SMAD2-related conditionClinVarPMID:28492532
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 RCV001568053 CLINVAR
  RCV004551919 CLINVAR
dbSNP (RS) rs377290715 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR