RGD:13436935 Rat Genome Database

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Variant: RGD:13436935 -  Homo sapiens

RGD ID: 13436935
RS ID: rs147785187
ClinVar ID: CV433589
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLIF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 59,612,847
GRCh38 11 59,845,374
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008120.1:g.5128G>A
NC_000011.10:g.59845374C>T
NC_000011.9:g.59612847C>T
NM_005142.3:c.79+1G>A
More... 		01/16/2020 splice donor variant pathogenic Congenital intrinsic factor deficiency; none provided; 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:14576042   PMID:15738392   PMID:16199547   PMID:20408840   PMID:22929189   PMID:24033266   PMID:25308559   PMID:25741868   PMID:27577878   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000688054 CLINVAR
  RCV000734690 CLINVAR
  RCV001197357 CLINVAR
dbSNP (RS) rs147785187 CLINVAR
MedGen C1394891 CLINVAR
  C3661900 CLINVAR
NCBI Gene GIF CLINVAR
OMIM 261000 CLINVAR
  609342 CLINVAR
OMIM Allele 609342.0003 CLINVAR