MCOLN1 mucolipin TRP cation channel 1

Information
Symbol
MCOLN1
Type
protein-coding
Description
mucolipin TRP cation channel 1
Entrez Gene ID
57192
Genome
hg19
Position
chr19:7,587,510-7,598,895
Genome
hg38
Position
chr19:7,522,624-7,534,009
MIM
605248 OMIM
HGNC
HGNC:13356 HGNC
Ensembl
ENSG00000090674 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 124
Likely pathogenic 1 100
Benign 0 60
Likely benign 0 1,054
Conflicting classifications of pathogenicity 0 96
Uncertain significance 0 274
Ranking
ClinVar
0
0
158
1,400
14
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 LECD
SYNONYM MG-2
SYNONYM ML1
SYNONYM ML4
SYNONYM MLIV
SYNONYM MST080
SYNONYM MSTP080
SYNONYM TRP-ML1
SYNONYM TRPM-L1
SYNONYM TRPML1
MIM 605248 OMIM
HGNC HGNC:13356 HGNC
Ensembl ENSG00000090674 Ensembl
AllianceGenome HGNC:13356
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264079.11 hg38 chr19 7,522,624 7,534,009 11,386
ENST00000264079.11 hg19 chr19 7,587,510 7,598,895 11,386
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