RGD:14393656 Rat Genome Database

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Variant: RGD:14393656 -  Homo sapiens

RGD ID: 14393656
RS ID: rs11825834
ClinVar ID: CV609795
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLIF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 59,611,415
GRCh38 11 59,843,942
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.59843942C>T
NM_005142.2:c.193G>A
NP_005133.2:p.Gly65Arg
NM_005142.3:c.193G>A
More... 		12/31/2019 missense variant benign|likely benign 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:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENSVTSSAYPNPSILIAMNLARAYNLKAQKLLTYQLM
SSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKT
LLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYSTGLAMQALSVTPEPS
KKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKGKTYLDVPQVTCSPDHEVQPTLPSNPGPGPTSASNITVIYTINN
QLRGVELLFNETINVSVKSGSVLLVVLEEAQRKNPMFKFETTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVA
DYIPFNHEHITANFTQY*

Gene Symbol:CBLIF
Accession:XM_011544939
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENSVTSSAYPNPSILIAMNLARAYNLKAQKLLTYQLM
SSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKT
LLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYSTGLAMQALSVTPEPS
KKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKDHEVQPTLPSNPGPGPTSASNITVIYTINNQLRGVELLFNETIN
VSVKSGSVLLVVLEEAQRKNPMFKFETTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVADYIPFNHEHITANF
TQY*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000756201 CLINVAR
  RCV001087965 CLINVAR
  RCV003918235 CLINVAR
dbSNP (RS) rs11825834 CLINVAR
MedGen C1394891 CLINVAR
  C3661900 CLINVAR
NCBI Gene CBLIF CLINVAR
OMIM 261000 CLINVAR
  609342 CLINVAR