RGD:11606757 Rat Genome Database

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Variant: RGD:11606757 -  Homo sapiens

RGD ID: 11606757
RS ID: rs199774490
ClinVar ID: CV320840
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUBN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 16,932,534
GRCh38 10 16,890,535
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_540t1:c.8599-8C>T
LRG_540:g.244283C>T
NG_008967.1:g.244283C>T
NC_000010.11:g.16890535G>A
More... 		08/12/2021 intron variant likely benign|uncertain significance Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Imerslund-Gräsbeck syndrome; Imerslund-Gräsbeck syndrome 1; Megaloblastic anemia 1, Finnish type; Megaloblastic anemia due to inborn errors of metabolism; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CUBN
Accession:XM_011519709
Location:INTRON

Gene Symbol:CUBN
Accession:XM_011519710
Location:INTRON

Gene Symbol:CUBN
Accession:XM_011519708
Location:INTRON

Gene Symbol:CUBN
Accession:NM_001081
Location:INTRON

Gene Symbol:CUBN
Accession:XM_011519711
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000335207 CLINVAR
  RCV002059533 CLINVAR
dbSNP (RS) rs199774490 CLINVAR
MedGen C4016819 CLINVAR
  C4551825 CLINVAR
NCBI Gene CUBN CLINVAR
OMIM 250950 CLINVAR
  261100 CLINVAR
  602997 CLINVAR
SNOMED CT 34925000 CLINVAR