POC1B-GALNT4 POC1B-GALNT4 readthrough

Information
Symbol
POC1B-GALNT4
Type
protein-coding
Description
POC1B-GALNT4 readthrough
Entrez Gene ID
100528030
Genome
hg19
Position
chr12:89,913,185-89,919,975
Genome
hg38
Position
chr12:89,519,408-89,526,198
HGNC
HGNC:42957 HGNC
Ensembl
ENSG00000259075 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 6
Benign 0 8
Likely benign 0 38
Uncertain significance 0 110
Ranking
ClinVar
0
0
2
160
0
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 GALNT4
SYNONYM GalNAc-T4
HGNC HGNC:42957 HGNC
Ensembl ENSG00000259075 Ensembl
AllianceGenome HGNC:42957
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000547474.1 hg38 chr12 89,521,934 89,526,262 4,329
ENST00000548729.5 hg38 chr12 89,519,408 89,526,198 6,791
ENST00000548729.5 hg19 chr12 89,913,185 89,919,975 6,791
ENST00000547474.1 hg19 chr12 89,915,711 89,920,039 4,329
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