PIH1D1 PIH1 domain containing 1

Information
Symbol
PIH1D1
Type
protein-coding
Description
PIH1 domain containing 1
Entrez Gene ID
55011
Genome
hg19
Position
chr19:49,949,555-49,955,071
Genome
hg38
Position
chr19:49,446,298-49,451,814
MIM
611480 OMIM
HGNC
HGNC:26075 HGNC
Ensembl
ENSG00000104872 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
42
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 DNAAF14
SYNONYM MOT48
SYNONYM NOP17
SYNONYM Pih1
MIM 611480 OMIM
HGNC HGNC:26075 HGNC
Ensembl ENSG00000104872 Ensembl
AllianceGenome HGNC:26075
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262265.10 hg38 chr19 49,446,298 49,451,814 5,517
ENST00000596049.5 hg38 chr19 49,446,369 49,453,494 7,126
ENST00000262265.10 hg19 chr19 49,949,555 49,955,071 5,517
ENST00000596049.5 hg19 chr19 49,949,626 49,956,751 7,126
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