RGD:11611644 Rat Genome Database

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Variant: RGD:11611644 -  Homo sapiens

RGD ID: 11611644
RS ID: rs776579478
ClinVar ID: CV314890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUBN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 16,982,242
GRCh38 10 16,940,243
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_540t1:c.5343-6A>G
LRG_540:g.194575A>G
NG_008967.1:g.194575A>G
NC_000010.11:g.16940243T>C
More... 		01/12/2018 intron variant uncertain significance Imerslund-Gräsbeck syndrome 1; Megaloblastic anemia 1, Finnish type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CUBN
Accession:XM_011519708
Location:INTRON

Gene Symbol:CUBN
Accession:XM_011519709
Location:INTRON

Gene Symbol:CUBN
Accession:XM_011519711
Location:INTRON

Gene Symbol:CUBN
Accession:XM_011519710
Location:INTRON

Gene Symbol:CUBN
Accession:NM_001081
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000397877 CLINVAR
dbSNP (RS) rs776579478 CLINVAR
MedGen C4016819 CLINVAR
NCBI Gene CUBN CLINVAR
OMIM 250950 CLINVAR
  261100 CLINVAR
  602997 CLINVAR