SEC14L3 SEC14 like lipid binding 3

Information
Symbol
SEC14L3
Type
protein-coding
Description
SEC14 like lipid binding 3
Entrez Gene ID
266629
Genome
hg19
Position
chr22:30,855,216-30,868,004
Genome
hg38
Position
chr22:30,459,229-30,472,017
MIM
612824 OMIM
HGNC
HGNC:18655 HGNC
Ensembl
ENSG00000100012 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
54
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 :
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 TAP2
MIM 612824 OMIM
HGNC HGNC:18655 HGNC
Ensembl ENSG00000100012 Ensembl
AllianceGenome HGNC:18655
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000403066.5 hg38 chr22 30,447,959 30,472,017 24,059
ENST00000215812.9 hg38 chr22 30,459,229 30,472,017 12,789
ENST00000401751.5 hg38 chr22 30,459,506 30,471,986 12,481
ENST00000540910.5 hg38 chr22 30,459,230 30,470,585 11,356
ENST00000402286.5 hg38 chr22 30,459,506 30,471,986 12,481
ENST00000403066.5 hg19 chr22 30,843,946 30,868,004 24,059
ENST00000215812.9 hg19 chr22 30,855,216 30,868,004 12,789
ENST00000540910.5 hg19 chr22 30,855,217 30,866,572 11,356
ENST00000401751.5 hg19 chr22 30,855,493 30,867,973 12,481
ENST00000402286.5 hg19 chr22 30,855,493 30,867,973 12,481
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