PDZK1 PDZ domain containing 1

Information
Symbol
PDZK1
Type
protein-coding
Description
PDZ domain containing 1
Entrez Gene ID
5174
Genome
hg19
Position
chr1:145,743,263-145,764,074
Genome
hg38
Position
chr1:145,670,985-145,691,802
MIM
603831 OMIM
HGNC
HGNC:8821 HGNC
Ensembl
ENSG00000174827 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 4 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
28
2
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 CAP70
SYNONYM CLAMP
SYNONYM NHERF-3
SYNONYM NHERF3
SYNONYM PDZD1
MIM 603831 OMIM
HGNC HGNC:8821 HGNC
Ensembl ENSG00000174827 Ensembl
AllianceGenome HGNC:8821
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000451928.6 hg38 chr1 145,670,852 145,707,400 36,549
ENST00000344770.6 hg38 chr1 145,670,985 145,691,802 20,818
ENST00000417171.6 hg38 chr1 145,670,985 145,707,368 36,384
ENST00000451928.6 hg19 chr1 145,727,666 145,764,207 36,542
ENST00000344770.6 hg19 chr1 145,743,263 145,764,074 20,812
ENST00000417171.6 hg19 chr1 145,727,698 145,764,074 36,377
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