PHETA1 PH domain containing endocytic trafficking adaptor 1

Information
Symbol
PHETA1
Type
protein-coding
Description
PH domain containing endocytic trafficking adaptor 1
Entrez Gene ID
144717
Genome
hg19
Position
chr12:111,798,455-111,806,925
Genome
hg38
Position
chr12:111,360,651-111,369,121
MIM
614239 OMIM
HGNC
HGNC:26509 HGNC
Ensembl
ENSG00000198324 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
36
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 :
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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 FAM109A
SYNONYM IPIP27A
SYNONYM SES1
MIM 614239 OMIM
HGNC HGNC:26509 HGNC
Ensembl ENSG00000198324 Ensembl
AllianceGenome HGNC:26509
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000683047.1 hg38 chr12 111,360,679 111,369,095 8,417
ENST00000548163.1 hg38 chr12 111,361,215 111,363,712 2,498
ENST00000361483.4 hg38 chr12 111,360,651 111,369,121 8,471
ENST00000547838.2 hg38 chr12 111,360,680 111,363,749 3,070
ENST00000361483.4 hg19 chr12 111,798,455 111,806,925 8,471
ENST00000683047.1 hg19 chr12 111,798,483 111,806,899 8,417
ENST00000547838.2 hg19 chr12 111,798,484 111,801,553 3,070
ENST00000548163.1 hg19 chr12 111,799,019 111,801,516 2,498
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