BLTP1 bridge-like lipid transfer protein family member 1

Information
Symbol
BLTP1
Type
protein-coding
Description
bridge-like lipid transfer protein family member 1
Entrez Gene ID
84162
Genome
hg19
Position
chr4:123,073,486-123,283,907
Genome
hg38
Position
chr4:122,152,331-122,362,752
MIM
611565 OMIM
HGNC
HGNC:26953 HGNC
Ensembl
ENSG00000138688 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 42
Benign 0 242
Likely benign 0 116
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 520
Ranking
ClinVar
0
0
88
846
14
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 ALKKUCS
SYNONYM FSA
SYNONYM KIAA1109
SYNONYM Tweek
MIM 611565 OMIM
HGNC HGNC:26953 HGNC
Ensembl ENSG00000138688 Ensembl
AllianceGenome HGNC:26953
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000388738.8 hg38 chr4 122,152,383 122,362,707 210,325
ENST00000264501.8 hg38 chr4 122,152,333 122,362,752 210,420
ENST00000679879.1 hg38 chr4 122,152,331 122,362,752 210,422
ENST00000264501.8 hg19 chr4 123,073,488 123,283,907 210,420
ENST00000679879.1 hg19 chr4 123,073,486 123,283,907 210,422
ENST00000388738.8 hg19 chr4 123,073,538 123,283,862 210,325
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