GIPC1 GIPC PDZ domain containing family member 1

Information
Symbol
GIPC1
Type
protein-coding
Description
GIPC PDZ domain containing family member 1
Entrez Gene ID
10755
Genome
hg19
Position
chr19:14,588,574-14,606,939
Genome
hg38
Position
chr19:14,477,762-14,496,127
MIM
605072 OMIM
HGNC
HGNC:1226 HGNC
Ensembl
ENSG00000123159 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 0
Benign 0 2
Likely benign 0 6
not provided 2 0
Uncertain significance 0 54
Ranking
ClinVar
0
0
2
58
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
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 C19orf3
SYNONYM GIPC
SYNONYM GLUT1CBP
SYNONYM Hs.6454
SYNONYM IIP-1
SYNONYM NIP
SYNONYM OPDM2
SYNONYM RGS19IP1
SYNONYM SEMCAP
SYNONYM SYNECTIIN
SYNONYM SYNECTIN
SYNONYM TIP-2
MIM 605072 OMIM
HGNC HGNC:1226 HGNC
Ensembl ENSG00000123159 Ensembl
AllianceGenome HGNC:1226
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000586027.5 hg38 chr19 14,478,246 14,496,132 17,887
ENST00000345425.6 hg38 chr19 14,477,762 14,496,132 18,371
ENST00000393033.9 hg38 chr19 14,477,762 14,496,127 18,366
ENST00000393028.5 hg38 chr19 14,477,760 14,496,149 18,390
ENST00000591349.5 hg38 chr19 14,478,246 14,496,132 17,887
ENST00000393028.5 hg19 chr19 14,588,572 14,606,961 18,390
ENST00000393033.9 hg19 chr19 14,588,574 14,606,939 18,366
ENST00000345425.6 hg19 chr19 14,588,574 14,606,944 18,371
ENST00000586027.5 hg19 chr19 14,589,058 14,606,944 17,887
ENST00000591349.5 hg19 chr19 14,589,058 14,606,944 17,887
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