GIPC3 GIPC PDZ domain containing family member 3

Information
Symbol
GIPC3
Type
protein-coding
Description
GIPC PDZ domain containing family member 3
Entrez Gene ID
126326
Genome
hg19
Position
chr19:3,585,596-3,593,286
Genome
hg38
Position
chr19:3,585,598-3,593,288
MIM
608792 OMIM
HGNC
HGNC:18183 HGNC
Ensembl
ENSG00000179855 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 6
Benign 0 44
Likely benign 0 144
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 142
Ranking
ClinVar
0
0
64
264
18
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 C19orf64
SYNONYM DFNB15
SYNONYM DFNB72
SYNONYM DFNB95
MIM 608792 OMIM
HGNC HGNC:18183 HGNC
Ensembl ENSG00000179855 Ensembl
AllianceGenome HGNC:18183
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644946.1 hg38 chr19 3,585,598 3,593,288 7,691
ENST00000644452.3 hg38 chr19 3,585,478 3,593,541 8,064
ENST00000644452.3 hg19 chr19 3,585,476 3,593,539 8,064
ENST00000644946.1 hg19 chr19 3,585,596 3,593,286 7,691
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