LIPT1 lipoyltransferase 1

Information
Symbol
LIPT1
Type
protein-coding
Description
lipoyltransferase 1
Entrez Gene ID
51601
Genome
hg19
Position
chr2:99,771,418-99,779,620
Genome
hg38
Position
chr2:99,154,955-99,163,157
MIM
610284 OMIM
HGNC
HGNC:29569 HGNC
Ensembl
ENSG00000144182 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 8
Benign 0 36
Likely benign 0 46
Conflicting classifications of pathogenicity 0 14
not provided 0 2
Uncertain significance 0 98
Ranking
ClinVar
0
0
30
156
2
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 :
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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 LIPT1D
MIM 610284 OMIM
HGNC HGNC:29569 HGNC
Ensembl ENSG00000144182 Ensembl
AllianceGenome HGNC:29569
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000393473.6 hg38 chr2 99,154,955 99,163,157 8,203
ENST00000393471.2 hg38 chr2 99,154,955 99,163,148 8,194
ENST00000651691.1 hg38 chr2 99,154,967 99,163,137 8,171
ENST00000393471.2 hg19 chr2 99,771,418 99,779,611 8,194
ENST00000393473.6 hg19 chr2 99,771,418 99,779,620 8,203
ENST00000651691.1 hg19 chr2 99,771,430 99,779,600 8,171
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