CHML CHM like Rab escort protein

Information
Symbol
CHML
Type
protein-coding
Description
CHM like Rab escort protein
Entrez Gene ID
1122
Genome
hg19
Position
chr1:241,792,153-241,803,671
Genome
hg38
Position
chr1:241,628,851-241,640,369
MIM
118825 OMIM
HGNC
HGNC:1941 HGNC
Ensembl
ENSG00000203668 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 10
Uncertain significance 0 84
Ranking
ClinVar
0
0
0
96
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 REP2
MIM 118825 OMIM
HGNC HGNC:1941 HGNC
Ensembl ENSG00000203668 Ensembl
AllianceGenome HGNC:1941
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000638160.1 hg38 chr1 241,635,466 241,640,254 4,789
ENST00000638121.1 hg38 chr1 241,635,527 241,640,254 4,728
ENST00000366553.3 hg38 chr1 241,628,851 241,640,369 11,519
ENST00000366553.3 hg19 chr1 241,792,153 241,803,671 11,519
ENST00000638160.1 hg19 chr1 241,798,768 241,803,556 4,789
ENST00000638121.1 hg19 chr1 241,798,829 241,803,556 4,728
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