LCE1E late cornified envelope 1E
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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18 |
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0 |
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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | LEP5 |
MIM | 612607 OMIM |
HGNC | HGNC:29466 HGNC |
Ensembl | ENSG00000186226 Ensembl |
AllianceGenome | HGNC:29466 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000368771.1 | hg38 | chr1 | 152,786,214 | 152,787,702 | 1,489 |
ENST00000368770.4 | hg38 | chr1 | 152,786,257 | 152,788,426 | 2,170 |
ENST00000619588.1 | hg38 | chr1 | 152,787,300 | 152,787,656 | 357 |
ENST00000368771.1 | hg19 | chr1 | 152,758,690 | 152,760,178 | 1,489 |
ENST00000368770.4 | hg19 | chr1 | 152,758,733 | 152,760,902 | 2,170 |
ENST00000619588.1 | hg19 | chr1 | 152,759,776 | 152,760,132 | 357 |
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