CD1E CD1e molecule
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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44 |
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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
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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 |
Search Word
Target data | : |
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 | CD1A |
SYNONYM | R2 |
MIM | 188411 OMIM |
HGNC | HGNC:1638 HGNC |
Ensembl | ENSG00000158488 Ensembl |
AllianceGenome | HGNC:1638 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000368154.5 | hg38 | chr1 | 158,353,989 | 158,356,896 | 2,908 |
ENST00000368155.7 | hg38 | chr1 | 158,353,989 | 158,356,896 | 2,908 |
ENST00000368156.5 | hg38 | chr1 | 158,353,989 | 158,356,896 | 2,908 |
ENST00000368157.5 | hg38 | chr1 | 158,353,989 | 158,356,896 | 2,908 |
ENST00000368167.8 | hg38 | chr1 | 158,353,894 | 158,357,553 | 3,660 |
ENST00000368165.7 | hg38 | chr1 | 158,353,883 | 158,356,896 | 3,014 |
ENST00000368166.7 | hg38 | chr1 | 158,353,885 | 158,357,499 | 3,615 |
ENST00000368163.7 | hg38 | chr1 | 158,353,910 | 158,357,529 | 3,620 |
ENST00000368164.7 | hg38 | chr1 | 158,353,916 | 158,357,196 | 3,281 |
ENST00000368161.7 | hg38 | chr1 | 158,353,989 | 158,357,522 | 3,534 |
ENST00000368160.7 | hg38 | chr1 | 158,353,989 | 158,357,492 | 3,504 |
ENST00000444681.6 | hg38 | chr1 | 158,353,696 | 158,357,553 | 3,858 |
ENST00000452291.6 | hg38 | chr1 | 158,353,844 | 158,356,896 | 3,053 |
ENST00000444681.6 | hg19 | chr1 | 158,323,486 | 158,327,343 | 3,858 |
ENST00000452291.6 | hg19 | chr1 | 158,323,634 | 158,326,686 | 3,053 |
ENST00000368165.7 | hg19 | chr1 | 158,323,673 | 158,326,686 | 3,014 |
ENST00000368166.7 | hg19 | chr1 | 158,323,675 | 158,327,289 | 3,615 |
ENST00000368167.8 | hg19 | chr1 | 158,323,684 | 158,327,343 | 3,660 |
ENST00000368163.7 | hg19 | chr1 | 158,323,700 | 158,327,319 | 3,620 |
ENST00000368164.7 | hg19 | chr1 | 158,323,706 | 158,326,986 | 3,281 |
ENST00000368154.5 | hg19 | chr1 | 158,323,779 | 158,326,686 | 2,908 |
ENST00000368155.7 | hg19 | chr1 | 158,323,779 | 158,326,686 | 2,908 |
ENST00000368156.5 | hg19 | chr1 | 158,323,779 | 158,326,686 | 2,908 |
ENST00000368157.5 | hg19 | chr1 | 158,323,779 | 158,326,686 | 2,908 |
ENST00000368160.7 | hg19 | chr1 | 158,323,779 | 158,327,282 | 3,504 |
ENST00000368161.7 | hg19 | chr1 | 158,323,779 | 158,327,312 | 3,534 |
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