LNPK lunapark, ER junction formation factor

Information
Symbol
LNPK
Type
protein-coding
Description
lunapark, ER junction formation factor
Entrez Gene ID
80856
Genome
hg19
Position
chr2:176,788,625-176,867,022
Genome
hg38
Position
chr2:175,923,897-176,002,294
MIM
610236 OMIM
HGNC
HGNC:21610 HGNC
Ensembl
ENSG00000144320 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 8
Likely benign 0 30
Uncertain significance 0 28
Ranking
ClinVar
0
0
4
70
4
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 KIAA1715
SYNONYM LNP
SYNONYM LNP1
SYNONYM NEDEHCC
SYNONYM Ul
SYNONYM ulnaless
MIM 610236 OMIM
HGNC HGNC:21610 HGNC
Ensembl ENSG00000144320 Ensembl
AllianceGenome HGNC:21610
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000272748.9 hg38 chr2 175,923,882 176,002,267 78,386
ENST00000544803.5 hg38 chr2 175,923,897 176,002,294 78,398
ENST00000272748.9 hg19 chr2 176,788,610 176,866,995 78,386
ENST00000544803.5 hg19 chr2 176,788,625 176,867,022 78,398
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