PERM1 PPARGC1 and ESRR induced regulator, muscle 1

Information
Symbol
PERM1
Type
protein-coding
Description
PPARGC1 and ESRR induced regulator, muscle 1
Entrez Gene ID
84808
Genome
hg19
Position
chr1:910,578-917,473
Genome
hg38
Position
chr1:975,198-982,093
MIM
615921 OMIM
HGNC
HGNC:28208 HGNC
Ensembl
ENSG00000187642 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely benign 0 12
Ranking
ClinVar
0
0
0
12
2
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 C1orf170
MIM 615921 OMIM
HGNC HGNC:28208 HGNC
Ensembl ENSG00000187642 Ensembl
AllianceGenome HGNC:28208
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000341290.6 hg38 chr1 975,204 982,093 6,890
ENST00000694917.1 hg38 chr1 976,121 982,117 5,997
ENST00000433179.4 hg38 chr1 975,198 982,093 6,896
ENST00000433179.4 hg19 chr1 910,578 917,473 6,896
ENST00000341290.6 hg19 chr1 910,584 917,473 6,890
ENST00000694917.1 hg19 chr1 911,501 917,497 5,997
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