LIM2 lens intrinsic membrane protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 20 |
Likely benign | 0 | 22 |
Conflicting classifications of pathogenicity | 0 | 10 |
Uncertain significance | 0 | 100 |
Ranking
ClinVar | |
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0 |
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0 |
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24 |
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118 |
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4 |
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
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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 | CTRCT19 |
SYNONYM | MP17 |
SYNONYM | MP19 |
MIM | 154045 OMIM |
HGNC | HGNC:6610 HGNC |
Ensembl | ENSG00000105370 Ensembl |
AllianceGenome | HGNC:6610 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000596399.2 | hg38 | chr19 | 51,379,909 | 51,387,974 | 8,066 |
ENST00000221973.7 | hg38 | chr19 | 51,379,909 | 51,387,955 | 8,047 |
ENST00000221973.7 | hg19 | chr19 | 51,883,163 | 51,891,209 | 8,047 |
ENST00000596399.2 | hg19 | chr19 | 51,883,163 | 51,891,228 | 8,066 |
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