GUCA1ANB-GUCA1A GUCA1ANB-GUCA1A readthrough

Information
Symbol
GUCA1ANB-GUCA1A
Type
protein-coding
Description
GUCA1ANB-GUCA1A readthrough
Entrez Gene ID
118142757
Genome
hg19
Position
chr6:42,123,144-42,147,141
Genome
hg38
Position
chr6:42,155,406-42,179,403
HGNC
HGNC:56129 HGNC
Ensembl
ENSG00000290147 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 34
Benign 4 30
Likely benign 0 114
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 240
Ranking
ClinVar
0
0
58
360
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
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 GUCA1A
HGNC HGNC:56129 HGNC
Ensembl ENSG00000290147 Ensembl
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000654459.1 hg38 chr6 42,155,406 42,179,403 23,998
ENST00000654459.1 hg19 chr6 42,123,144 42,147,141 23,998
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