RGD:408369828 Rat Genome Database

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Variant: RGD:408369828 -  Homo sapiens

RGD ID: 408369828
ClinVar ID: CV3517070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 45,395,716
GRCh38 18 47,869,345
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001003652.4:c.418C>T
NC_000018.10:g.47869345G>A
NC_000018.9:g.45395716G>A
NM_005901.6:c.418C>T
More...
07/28/2024 missense variant uncertain significance SMAD2-related condition; SMAD2-related disorders

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Database
Acc Id
Source(s)
ClinVar RCV004737739 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR