PSD4 pleckstrin and Sec7 domain containing 4

Information
Symbol
PSD4
Type
protein-coding
Description
pleckstrin and Sec7 domain containing 4
Entrez Gene ID
23550
Genome
hg19
Position
chr2:113,931,548-113,966,968
Genome
hg38
Position
chr2:113,173,971-113,209,391
MIM
614442 OMIM
HGNC
HGNC:19096 HGNC
Ensembl
ENSG00000125637 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
not provided 1 0
Uncertain significance 0 106
Ranking
ClinVar
0
0
0
112
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 EFA6B
SYNONYM TIC
MIM 614442 OMIM
HGNC HGNC:19096 HGNC
Ensembl ENSG00000125637 Ensembl
AllianceGenome HGNC:19096
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000245796.11 hg38 chr2 113,173,971 113,209,391 35,421
ENST00000441564.7 hg38 chr2 113,173,997 113,209,396 35,400
ENST00000245796.11 hg19 chr2 113,931,548 113,966,968 35,421
ENST00000441564.7 hg19 chr2 113,931,574 113,966,973 35,400
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