BLTP3B bridge-like lipid transfer protein family member 3B

Information
Symbol
BLTP3B
Type
protein-coding
Description
bridge-like lipid transfer protein family member 3B
Entrez Gene ID
23074
Genome
hg19
Position
chr12:100,430,850-100,536,652
Genome
hg38
Position
chr12:100,037,072-100,142,874
MIM
619811 OMIM
HGNC
HGNC:29102 HGNC
Ensembl
ENSG00000111647 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 28
Likely benign 0 8
Uncertain significance 0 126
Ranking
ClinVar
0
0
2
160
0
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 :
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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 SHIP164
SYNONYM SHIP164A
SYNONYM UHRF1BP1L
MIM 619811 OMIM
HGNC HGNC:29102 HGNC
Ensembl ENSG00000111647 Ensembl
AllianceGenome HGNC:29102
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000545232.6 hg38 chr12 100,037,143 100,092,948 55,806
ENST00000356828.7 hg38 chr12 100,069,908 100,142,847 72,940
ENST00000279907.12 hg38 chr12 100,037,072 100,142,874 105,803
ENST00000279907.12 hg19 chr12 100,430,850 100,536,652 105,803
ENST00000545232.6 hg19 chr12 100,430,921 100,486,726 55,806
ENST00000356828.7 hg19 chr12 100,463,686 100,536,625 72,940
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