MCOLN1 mucolipin TRP cation channel 1
Information
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 | |
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0 |
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0 |
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158 |
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1,400 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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