IGSF1 immunoglobulin superfamily member 1

Information
Symbol
IGSF1
Type
protein-coding
Description
immunoglobulin superfamily member 1
Entrez Gene ID
3547
Genome
hg19
Position
chrX:130,407,480-130,423,280
Genome
hg38
Position
chrX:131,273,506-131,289,306
MIM
300137 OMIM
HGNC
HGNC:5948 HGNC
Ensembl
ENSG00000147255 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 32
Likely pathogenic 0 8
Benign 0 70
Likely benign 0 98
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 168
Ranking
ClinVar
0
0
32
310
24
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CHTE
SYNONYM IGCD1
SYNONYM IGDC1
SYNONYM INHBP
SYNONYM PGSF2
SYNONYM p120
MIM 300137 OMIM
HGNC HGNC:5948 HGNC
Ensembl ENSG00000147255 Ensembl
AllianceGenome HGNC:5948
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000651556.1 hg38 chrX 131,273,547 131,289,463 15,917
ENST00000370910.5 hg38 chrX 131,273,506 131,289,278 15,773
ENST00000652189.1 hg38 chrX 131,273,541 131,289,457 15,917
ENST00000370900.5 hg38 chrX 131,284,166 131,289,060 4,895
ENST00000370901.4 hg38 chrX 131,284,166 131,289,286 5,121
ENST00000370903.8 hg38 chrX 131,273,506 131,289,306 15,801
ENST00000370904.6 hg38 chrX 131,273,511 131,578,899 305,389
ENST00000361420.8 hg38 chrX 131,273,506 131,289,306 15,801
ENST00000361420.8 hg19 chrX 130,407,480 130,423,280 15,801
ENST00000370903.8 hg19 chrX 130,407,480 130,423,280 15,801
ENST00000370904.6 hg19 chrX 130,407,485 130,712,873 305,389
ENST00000370900.5 hg19 chrX 130,418,140 130,423,034 4,895
ENST00000370901.4 hg19 chrX 130,418,140 130,423,260 5,121
ENST00000370910.5 hg19 chrX 130,407,480 130,423,252 15,773
ENST00000651556.1 hg19 chrX 130,407,521 130,423,437 15,917
ENST00000652189.1 hg19 chrX 130,407,515 130,423,431 15,917
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