PDZD11 PDZ domain containing 11

Information
Symbol
PDZD11
Type
protein-coding
Description
PDZ domain containing 11
Entrez Gene ID
51248
Genome
hg19
Position
chrX:69,506,445-69,509,763
Genome
hg38
Position
chrX:70,286,595-70,289,913
MIM
300632 OMIM
HGNC
HGNC:28034 HGNC
Ensembl
ENSG00000120509 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 6 0
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
6
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 AIPP1
SYNONYM PDZK11
SYNONYM PISP
MIM 300632 OMIM
HGNC HGNC:28034 HGNC
Ensembl ENSG00000120509 Ensembl
AllianceGenome HGNC:28034
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000239666.9 hg38 chrX 70,286,595 70,289,927 3,333
ENST00000374454.1 hg38 chrX 70,286,892 70,289,945 3,054
ENST00000473667.6 hg38 chrX 70,286,595 70,289,913 3,319
ENST00000486461.2 hg38 chrX 70,286,892 70,290,514 3,623
ENST00000473667.6 hg19 chrX 69,506,445 69,509,763 3,319
ENST00000239666.9 hg19 chrX 69,506,445 69,509,777 3,333
ENST00000374454.1 hg19 chrX 69,506,742 69,509,795 3,054
ENST00000486461.2 hg19 chrX 69,506,742 69,510,364 3,623
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