MLC1 modulator of VRAC current 1

Information
Symbol
MLC1
Type
protein-coding
Description
modulator of VRAC current 1
Entrez Gene ID
23209
Genome
hg19
Position
chr22:50,497,820-50,523,783
Genome
hg38
Position
chr22:50,059,391-50,085,354
MIM
605908 OMIM
HGNC
HGNC:17082 HGNC
Ensembl
ENSG00000100427 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 110
Likely pathogenic 0 156
Benign 0 192
Likely benign 0 606
Conflicting classifications of pathogenicity 0 32
not provided 1 10
Uncertain significance 0 296
Ranking
ClinVar
0
0
228
1,052
22
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 LVM
SYNONYM MLC
SYNONYM VL
MIM 605908 OMIM
HGNC HGNC:17082 HGNC
Ensembl ENSG00000100427 Ensembl
AllianceGenome HGNC:17082
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395876.6 hg38 chr22 50,059,391 50,085,354 25,964
ENST00000311597.10 hg38 chr22 50,059,391 50,085,426 26,036
ENST00000395876.6 hg19 chr22 50,497,820 50,523,783 25,964
ENST00000311597.10 hg19 chr22 50,497,820 50,523,855 26,036
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