RGD:15142656 Rat Genome Database

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Variant: RGD:15142656 -  Homo sapiens

RGD ID: 15142656
RS ID: rs111951711
ClinVar ID: CV695845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEC23B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 18,526,845
GRCh38 20 18,546,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032985.6:c.1743+168A>G
NM_001172746.3:c.1689+168A>G
NM_001172745.3:c.1743+168A>G
NM_006363.6:c.1743+168A>G
More... 		05/13/2020 intron variant benign|conflicting interpretations of pathogenicity|uncertain significance CDA 2; Cowden syndrome 7; Dyserythropoietic anemia, congenital type 2; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEC23B
Accession:NM_001172745
Location:INTRON

Gene Symbol:SEC23B
Accession:NM_006363
Location:INTRON

Gene Symbol:SEC23B
Accession:NM_001172746
Location:INTRON

Gene Symbol:SEC23B
Accession:NM_032985
Location:INTRON

Gene Symbol:SEC23B
Accession:NM_032986
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000877909 CLINVAR
  RCV001509054 CLINVAR
dbSNP (RS) rs111951711 CLINVAR
MedGen C1306589 CLINVAR
  C3661900 CLINVAR
NCBI Gene SEC23B CLINVAR
OMIM 224100 CLINVAR
  610512 CLINVAR
  616858 CLINVAR
SNOMED CT 68870007 CLINVAR