RGD:15146402 Rat Genome Database

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Variant: RGD:15146402 -  Homo sapiens

RGD ID: 15146402
RS ID: rs370833765
ClinVar ID: CV787990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLIF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 59,599,272
GRCh38 11 59,831,799
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.59831799A>G
NC_000011.9:g.59599272A>G
NM_005142.2:c.1074-3T>C
NG_008120.1:g.18703T>C
More...
09/16/2020 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance 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:INTRON

Gene Symbol:CBLIF
Accession:XM_011544939
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001104539 CLINVAR
dbSNP (RS) rs370833765 CLINVAR
MedGen C1394891 CLINVAR
NCBI Gene CBLIF CLINVAR
OMIM 261000 CLINVAR
  609342 CLINVAR