PPHLN1 periphilin 1

Information
Symbol
PPHLN1
Type
protein-coding
Description
periphilin 1
Entrez Gene ID
51535
Genome
hg19
Position
chr12:42,719,968-42,841,129
Genome
hg38
Position
chr12:42,326,166-42,447,327
MIM
608150 OMIM
HGNC
HGNC:19369 HGNC
Ensembl
ENSG00000134283 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
38
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 :
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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 CR
SYNONYM HSPC206
SYNONYM HSPC232
MIM 608150 OMIM
HGNC HGNC:19369 HGNC
Ensembl ENSG00000134283 Ensembl
AllianceGenome HGNC:19369
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000549190.5 hg38 chr12 42,238,447 42,441,947 203,501
ENST00000552761.5 hg38 chr12 42,326,171 42,441,543 115,373
ENST00000613154.4 hg38 chr12 42,326,149 42,442,181 116,033
ENST00000337898.10 hg38 chr12 42,326,145 42,445,446 119,302
ENST00000395568.6 hg38 chr12 42,326,166 42,447,327 121,162
ENST00000610488.4 hg38 chr12 42,326,149 42,446,618 120,470
ENST00000619544.4 hg38 chr12 42,326,149 42,446,618 120,470
ENST00000256678.12 hg38 chr12 42,326,167 42,447,165 120,999
ENST00000358314.12 hg38 chr12 42,326,167 42,442,181 116,015
ENST00000395580.7 hg38 chr12 42,326,145 42,441,950 115,806
ENST00000317560.13 hg38 chr12 42,326,174 42,459,715 133,542
ENST00000432191.6 hg38 chr12 42,326,178 42,448,618 122,441
ENST00000449194.6 hg38 chr12 42,326,168 42,441,963 115,796
ENST00000395580.7 hg19 chr12 42,719,947 42,835,752 115,806
ENST00000337898.10 hg19 chr12 42,719,947 42,839,248 119,302
ENST00000552761.5 hg19 chr12 42,719,973 42,835,345 115,373
ENST00000549190.5 hg19 chr12 42,632,249 42,835,749 203,501
ENST00000395568.6 hg19 chr12 42,719,968 42,841,129 121,162
ENST00000358314.12 hg19 chr12 42,719,969 42,835,983 116,015
ENST00000256678.12 hg19 chr12 42,719,969 42,840,967 120,999
ENST00000449194.6 hg19 chr12 42,719,970 42,835,765 115,796
ENST00000317560.13 hg19 chr12 42,719,976 42,853,517 133,542
ENST00000432191.6 hg19 chr12 42,719,980 42,842,420 122,441
ENST00000619544.4 hg19 chr12 42,719,951 42,840,420 120,470
ENST00000610488.4 hg19 chr12 42,719,951 42,840,420 120,470
ENST00000613154.4 hg19 chr12 42,719,951 42,835,983 116,033
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