PHETA2 PH domain containing endocytic trafficking adaptor 2

Information
Symbol
PHETA2
Type
protein-coding
Description
PH domain containing endocytic trafficking adaptor 2
Entrez Gene ID
150368
Genome
hg19
Position
chr22:42,470,252-42,475,442
Genome
hg38
Position
chr22:42,074,248-42,079,438
MIM
614240 OMIM
HGNC
HGNC:27161 HGNC
Ensembl
ENSG00000177096 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
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
[No Data.]
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 FAM109B
SYNONYM IPIP27B
SYNONYM Ses2
MIM 614240 OMIM
HGNC HGNC:27161 HGNC
Ensembl ENSG00000177096 Ensembl
AllianceGenome HGNC:27161
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000321753.8 hg38 chr22 42,074,248 42,079,438 5,191
ENST00000321753.8 hg19 chr22 42,470,252 42,475,442 5,191
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