RGD:8595483 Rat Genome Database

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Variant: RGD:8595483 -  Homo sapiens

RGD ID: 8595483
RS ID: rs121434322
ClinVar ID: CV16785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLIF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 59,611,471
GRCh38 11 59,843,998
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.6504C>T
NC_000011.10:g.59843998G>A
NC_000011.9:g.59611471G>A
NP_005133.2:p.Ser46Leu
More... 		10/17/2022 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|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:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENLVTSSAYPNPSILIAMNLAGAYNLKAQKLLTYQLM
SSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKT
LLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYSTGLAMQALSVTPEPS
KKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKGKTYLDVPQVTCSPDHEVQPTLPSNPGPGPTSASNITVIYTINN
QLRGVELLFNETINVSVKSGSVLLVVLEEAQRKNPMFKFETTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVA
DYIPFNHEHITANFTQY*

Gene Symbol:CBLIF
Accession:XM_011544939
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENLVTSSAYPNPSILIAMNLAGAYNLKAQKLLTYQLM
SSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAILALCQKNSEATLPIAVRFAKT
LLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYSTGLAMQALSVTPEPS
KKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKDHEVQPTLPSNPGPGPTSASNITVIYTINNQLRGVELLFNETIN
VSVKSGSVLLVVLEEAQRKNPMFKFETTMTSWGLVVSSINNIAENVNHKTYWQFLSGVTPLNEGVADYIPFNHEHITANF
TQY*
Variant Samples
Additional References at PubMed
PMID:15738392   PMID:22929189   PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001816 CLINVAR
dbSNP (RS) rs121434322 CLINVAR
MedGen C1394891 CLINVAR
NCBI Gene GIF CLINVAR
OMIM 261000 CLINVAR
  609342 CLINVAR
OMIM Allele 609342.0005 CLINVAR