rs2144474365 Rat Genome Database

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Variant: rs2144474365 -  Homo sapiens

RGD ID: 150413596
RS ID: rs2144474365
ClinVar ID: CV1192065
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SMAD2  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 18 45,422,940
GRCh38 18 47,896,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000018.9:g.45422941del
NM_005901.5:c.189delA
NP_001003652.1:p.Ala64fs
NP_001129409.1:p.Ala64fs
More... 		05/10/2019 frameshift variant pathogenic none provided

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Database
Acc Id
Source(s)
ClinVar RCV001567249 CLINVAR
dbSNP (RS) rs2144474365 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR