CBLIF cobalamin binding intrinsic factor

Information
Symbol
CBLIF
Type
protein-coding
Description
cobalamin binding intrinsic factor
Entrez Gene ID
2694
Genome
hg19
Position
chr11:59,596,746-59,612,972
Genome
hg38
Position
chr11:59,829,273-59,845,499
MIM
609342 OMIM
HGNC
HGNC:4268 HGNC
Ensembl
ENSG00000134812 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 8
Benign 0 32
Likely benign 0 82
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 128
Ranking
ClinVar
0
0
44
206
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM GIF
SYNONYM IF
SYNONYM IFMH
SYNONYM INF
SYNONYM TCN3
MIM 609342 OMIM
HGNC HGNC:4268 HGNC
Ensembl ENSG00000134812 Ensembl
AllianceGenome HGNC:4268
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000257248.3 hg38 chr11 59,829,273 59,845,499 16,227
ENST00000257248.3 hg19 chr11 59,596,746 59,612,972 16,227
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