RGD:11658346 Rat Genome Database

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Variant: RGD:11658346 -  Homo sapiens

RGD ID: 11658346
RS ID: rs886048401
ClinVar ID: CV327032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLIF  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 59,596,901
GRCh38 11 59,829,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008120.1:g.21074T>G
NC_000011.10:g.59829428A>C
NC_000011.9:g.59596901A>C
NM_005142.3:c.*56T>G
More... 		06/14/2016 3 prime utr variant uncertain significance childhood <1 / 1 000 000 Congenital intrinsic factor deficiency; PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CBLIF
Accession:NM_005142
Location:3UTRS;EXON

Gene Symbol:CBLIF
Accession:XM_011544939
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000348158 CLINVAR
dbSNP (RS) rs886048401 CLINVAR
MedGen C1394891 CLINVAR
NCBI Gene GIF CLINVAR
OMIM 261000 CLINVAR
  609342 CLINVAR