RGD:28883063 Rat Genome Database

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Variant: RGD:28883063 -  Homo sapiens

RGD ID: 28883063
RS ID: rs778992067
ClinVar ID: CV885842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEC23B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 18,541,945
GRCh38 20 18,561,301
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1134t1:c.*561A>C
NM_006363.4:c.*561A>C
NG_016281.2:g.58820A>C
NM_001172746.3:c.*561A>C
More... 		01/13/2018 3 prime utr variant uncertain significance CDA 2; Dyserythropoietic anemia, congenital type 2; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEC23B
Accession:NM_001172745
Location:3UTRS;EXON

Gene Symbol:SEC23B
Accession:NM_001172746
Location:3UTRS;EXON

Gene Symbol:SEC23B
Accession:NM_032985
Location:3UTRS;EXON

Gene Symbol:SEC23B
Accession:NM_006363
Location:3UTRS;EXON

Gene Symbol:SEC23B
Accession:NM_032986
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001136813 CLINVAR
dbSNP (RS) rs778992067 CLINVAR
MedGen C1306589 CLINVAR
NCBI Gene SEC23B CLINVAR
OMIM 224100 CLINVAR
  610512 CLINVAR
SNOMED CT 68870007 CLINVAR