PIH1D2 PIH1 domain containing 2

Information
Symbol
PIH1D2
Type
protein-coding
Description
PIH1 domain containing 2
Entrez Gene ID
120379
Genome
hg19
Position
chr11:111,938,522-111,944,704
Genome
hg38
Position
chr11:112,067,798-112,073,980
HGNC
HGNC:25210 HGNC
Ensembl
ENSG00000150773 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
26
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 DNAAF15
HGNC HGNC:25210 HGNC
Ensembl ENSG00000150773 Ensembl
AllianceGenome HGNC:25210
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000280350.10 hg38 chr11 112,067,798 112,074,017 6,220
ENST00000431456.6 hg38 chr11 112,064,018 112,074,020 10,003
ENST00000530641.5 hg38 chr11 112,069,737 112,074,274 4,538
ENST00000528775.6 hg38 chr11 112,063,218 112,074,013 10,796
ENST00000532211.5 hg38 chr11 112,067,798 112,073,980 6,183
ENST00000528775.6 hg19 chr11 111,933,942 111,944,737 10,796
ENST00000431456.6 hg19 chr11 111,934,742 111,944,744 10,003
ENST00000532211.5 hg19 chr11 111,938,522 111,944,704 6,183
ENST00000280350.10 hg19 chr11 111,938,522 111,944,741 6,220
ENST00000530641.5 hg19 chr11 111,940,461 111,944,998 4,538
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