MYL1 myosin light chain 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 22 |
Likely benign | 0 | 12 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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42 |
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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
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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 |
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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 | CMYP14 |
SYNONYM | MLC-1 |
SYNONYM | MLC1 |
SYNONYM | MLC1/3 |
SYNONYM | MLC1F |
SYNONYM | MLC3F |
SYNONYM | MYOFTA |
MIM | 160780 OMIM |
HGNC | HGNC:7582 HGNC |
Ensembl | ENSG00000168530 Ensembl |
AllianceGenome | HGNC:7582 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000341685.8 | hg38 | chr2 | 210,290,150 | 210,303,629 | 13,480 |
ENST00000352451.4 | hg38 | chr2 | 210,290,150 | 210,315,174 | 25,025 |
ENST00000341685.8 | hg19 | chr2 | 211,154,874 | 211,168,353 | 13,480 |
ENST00000352451.4 | hg19 | chr2 | 211,154,874 | 211,179,898 | 25,025 |
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