PIGS phosphatidylinositol glycan anchor biosynthesis class S

Information
Symbol
PIGS
Type
protein-coding
Description
phosphatidylinositol glycan anchor biosynthesis class S
Entrez Gene ID
94005
Genome
hg19
Position
chr17:26,880,405-26,898,542
Genome
hg38
Position
chr17:28,553,387-28,571,524
MIM
610271 OMIM
HGNC
HGNC:14937 HGNC
Ensembl
ENSG00000087111 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 8
Benign 0 12
Likely benign 0 38
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
22
96
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 :
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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 DEE95
SYNONYM GPIBD18
SYNONYM PIG-S
MIM 610271 OMIM
HGNC HGNC:14937 HGNC
Ensembl ENSG00000087111 Ensembl
AllianceGenome HGNC:14937
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395346.6 hg38 chr17 28,553,387 28,571,536 18,150
ENST00000706177.1 hg38 chr17 28,553,401 28,571,519 18,119
ENST00000706190.1 hg38 chr17 28,553,555 28,571,530 17,976
ENST00000706193.1 hg38 chr17 28,553,555 28,571,530 17,976
ENST00000308360.8 hg38 chr17 28,553,387 28,571,524 18,138
ENST00000706186.1 hg38 chr17 28,553,555 28,571,530 17,976
ENST00000308360.8 hg19 chr17 26,880,405 26,898,542 18,138
ENST00000395346.6 hg19 chr17 26,880,405 26,898,554 18,150
ENST00000706190.1 hg19 chr17 26,880,573 26,898,548 17,976
ENST00000706193.1 hg19 chr17 26,880,573 26,898,548 17,976
ENST00000706177.1 hg19 chr17 26,880,419 26,898,537 18,119
ENST00000706186.1 hg19 chr17 26,880,573 26,898,548 17,976
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