RGD:11610071 Rat Genome Database

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Variant: RGD:11610071 -  Homo sapiens

RGD ID: 11610071
RS ID: rs76742384
ClinVar ID: CV309834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUBN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 16,866,823
GRCh38 10 16,824,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_540t1:c.*151G>A
LRG_540:g.309994G>A
NG_008967.1:g.309994G>A
NC_000010.11:g.16824824C>T
More...
01/13/2018 3 prime utr variant benign|likely benign Imerslund-Gräsbeck syndrome 1; Megaloblastic anemia 1, Finnish type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CUBN
Accession:NM_001081
Location:3UTRS;EXON

Gene Symbol:CUBN
Accession:XM_011519710
Location:3UTRS;EXON

Gene Symbol:CUBN
Accession:XM_011519709
Location:3UTRS;EXON

Gene Symbol:CUBN
Accession:XM_011519711
Location:3UTRS;EXON

Gene Symbol:CUBN
Accession:XM_011519708
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000376694 CLINVAR
  RCV002260633 CLINVAR
dbSNP (RS) rs76742384 CLINVAR
MedGen C3661900 CLINVAR
  C4016819 CLINVAR
NCBI Gene CUBN CLINVAR
OMIM 250950 CLINVAR
  261100 CLINVAR
  602997 CLINVAR