C1GALT1C1 C1GALT1 specific chaperone 1

Information
Symbol
C1GALT1C1
Type
protein-coding
Description
C1GALT1 specific chaperone 1
Entrez Gene ID
29071
Genome
hg19
Position
chrX:119,759,529-119,763,909
Genome
hg38
Position
chrX:120,625,674-120,630,054
MIM
300611 OMIM
HGNC
HGNC:24338 HGNC
Ensembl
ENSG00000171155 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 2
Benign 0 8
Likely benign 0 16
not provided 6 0
Uncertain significance 0 32
Ranking
ClinVar
0
0
10
50
8
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 AHUS8
SYNONYM C1GALT2
SYNONYM C38H2-L1
SYNONYM COSMC
SYNONYM HSPC067
SYNONYM MST143
SYNONYM TNPS
MIM 300611 OMIM
HGNC HGNC:24338 HGNC
Ensembl ENSG00000171155 Ensembl
AllianceGenome HGNC:24338
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304661.6 hg38 chrX 120,625,674 120,630,054 4,381
ENST00000371313.2 hg38 chrX 120,625,931 120,629,995 4,065
ENST00000304661.6 hg19 chrX 119,759,529 119,763,909 4,381
ENST00000371313.2 hg19 chrX 119,759,786 119,763,850 4,065
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