PMP22 peripheral myelin protein 22

Information
Symbol
PMP22
Type
protein-coding
Description
peripheral myelin protein 22
Entrez Gene ID
5376
Genome
hg19
Position
chr17:15,133,090-15,166,507
Genome
hg38
Position
chr17:15,229,773-15,263,190
MIM
601097 OMIM
HGNC
HGNC:9118 HGNC
Ensembl
ENSG00000109099 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 110
Likely pathogenic 0 62
Benign 0 50
Likely benign 0 196
Conflicting classifications of pathogenicity 0 48
Uncertain significance 0 292
Ranking
ClinVar
0
0
150
434
94
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 CIDP
SYNONYM CMT1A
SYNONYM CMT1E
SYNONYM DSS
SYNONYM GAS-3
SYNONYM GAS3
SYNONYM HMSNIA
SYNONYM HNPP
SYNONYM Sp110
MIM 601097 OMIM
HGNC HGNC:9118 HGNC
Ensembl ENSG00000109099 Ensembl
AllianceGenome HGNC:9118
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000676161.1 hg38 chr17 15,229,795 15,265,230 35,436
ENST00000395938.7 hg38 chr17 15,229,779 15,262,587 32,809
ENST00000426385.4 hg38 chr17 15,235,787 15,262,552 26,766
ENST00000644020.1 hg38 chr17 15,229,790 15,260,789 31,000
ENST00000395936.7 hg38 chr17 15,229,817 15,262,541 32,725
ENST00000675819.1 hg38 chr17 15,229,779 15,262,543 32,765
ENST00000675950.1 hg38 chr17 15,229,785 15,263,204 33,420
ENST00000674868.1 hg38 chr17 15,230,719 15,272,292 41,574
ENST00000674651.1 hg38 chr17 15,229,790 15,261,348 31,559
ENST00000674707.1 hg38 chr17 15,229,795 15,262,544 32,750
ENST00000676221.1 hg38 chr17 15,229,784 15,265,326 35,543
ENST00000646419.2 hg38 chr17 15,229,817 15,265,325 35,509
ENST00000580584.3 hg38 chr17 15,229,779 15,265,326 35,548
ENST00000674673.1 hg38 chr17 15,229,773 15,263,190 33,418
ENST00000675854.1 hg38 chr17 15,229,779 15,262,552 32,774
ENST00000494511.7 hg38 chr17 15,229,779 15,265,326 35,548
ENST00000675551.1 hg38 chr17 15,229,779 15,260,761 30,983
ENST00000675808.1 hg38 chr17 15,229,786 15,262,605 32,820
ENST00000675350.1 hg38 chr17 15,230,712 15,272,007 41,296
ENST00000676329.1 hg38 chr17 15,229,779 15,260,761 30,983
ENST00000674947.1 hg38 chr17 15,229,818 15,260,818 31,001
ENST00000312280.9 hg38 chr17 15,229,779 15,265,326 35,548
ENST00000612492.5 hg38 chr17 15,229,779 15,262,605 32,827
ENST00000674673.1 hg19 chr17 15,133,090 15,166,507 33,418
ENST00000395936.7 hg19 chr17 15,133,134 15,165,858 32,725
ENST00000426385.4 hg19 chr17 15,139,104 15,165,869 26,766
ENST00000580584.3 hg19 chr17 15,133,096 15,168,643 35,548
ENST00000494511.7 hg19 chr17 15,133,096 15,168,643 35,548
ENST00000312280.9 hg19 chr17 15,133,096 15,168,643 35,548
ENST00000395938.7 hg19 chr17 15,133,096 15,165,904 32,809
ENST00000612492.5 hg19 chr17 15,133,096 15,165,922 32,827
ENST00000644020.1 hg19 chr17 15,133,107 15,164,106 31,000
ENST00000646419.2 hg19 chr17 15,133,134 15,168,642 35,509
ENST00000674651.1 hg19 chr17 15,133,107 15,164,665 31,559
ENST00000674707.1 hg19 chr17 15,133,112 15,165,861 32,750
ENST00000674868.1 hg19 chr17 15,134,036 15,175,609 41,574
ENST00000674947.1 hg19 chr17 15,133,135 15,164,135 31,001
ENST00000675350.1 hg19 chr17 15,134,029 15,175,324 41,296
ENST00000675551.1 hg19 chr17 15,133,096 15,164,078 30,983
ENST00000675808.1 hg19 chr17 15,133,103 15,165,922 32,820
ENST00000675819.1 hg19 chr17 15,133,096 15,165,860 32,765
ENST00000675854.1 hg19 chr17 15,133,096 15,165,869 32,774
ENST00000675950.1 hg19 chr17 15,133,102 15,166,521 33,420
ENST00000676221.1 hg19 chr17 15,133,101 15,168,643 35,543
ENST00000676161.1 hg19 chr17 15,133,112 15,168,547 35,436
ENST00000676329.1 hg19 chr17 15,133,096 15,164,078 30,983
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