rs149135973 Rat Genome Database

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Variant: rs149135973 -  Homo sapiens

RGD ID: 152039914
RS ID: rs149135973
ClinVar ID: CV1608729
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: SMAD2  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 18 45,391,421
GRCh38 18 47,865,050
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135937.3:c.640+10del
NM_001003652.4:c.730+10del
NM_005901.6:c.730+10del
NG_029946.1:g.71096del
More... 		04/12/2021 intron variant benign|likely benign none provided; SMAD2-related condition; SMAD2-related disorders
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002107584 CLINVAR
  RCV004553724 CLINVAR
dbSNP (RS) rs149135973 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR