PDZD4 PDZ domain containing 4

Information
Symbol
PDZD4
Type
protein-coding
Description
PDZ domain containing 4
Entrez Gene ID
57595
Genome
hg19
Position
chrX:153,067,621-153,095,999
Genome
hg38
Position
chrX:153,802,166-153,830,544
MIM
300634 OMIM
HGNC
HGNC:21167 HGNC
Ensembl
ENSG00000067840 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 16
not provided 6 0
Uncertain significance 0 66
Ranking
ClinVar
0
0
0
76
6
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 LNX5
SYNONYM LU1
SYNONYM PDZK4
SYNONYM PDZRN4L
MIM 300634 OMIM
HGNC HGNC:21167 HGNC
Ensembl ENSG00000067840 Ensembl
AllianceGenome HGNC:21167
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000164640.8 hg38 chrX 153,802,166 153,830,490 28,325
ENST00000544474.5 hg38 chrX 153,802,168 153,830,548 28,381
ENST00000393758.7 hg38 chrX 153,802,166 153,830,544 28,379
ENST00000164640.8 hg19 chrX 153,067,621 153,095,945 28,325
ENST00000393758.7 hg19 chrX 153,067,621 153,095,999 28,379
ENST00000544474.5 hg19 chrX 153,067,623 153,096,003 28,381
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