TMEM218 transmembrane protein 218
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 4 |
Likely benign | 0 | 4 |
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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24 |
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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 |
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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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | JBTS39 |
MIM | 619285 OMIM |
HGNC | HGNC:27344 HGNC |
Ensembl | ENSG00000150433 Ensembl |
AllianceGenome | HGNC:27344 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000529583.5 | hg38 | chr11 | 125,097,486 | 125,111,604 | 14,119 |
ENST00000528724.5 | hg38 | chr11 | 125,097,071 | 125,102,809 | 5,739 |
ENST00000531909.5 | hg38 | chr11 | 125,096,545 | 125,111,708 | 15,164 |
ENST00000526175.5 | hg38 | chr11 | 125,097,326 | 125,111,616 | 14,291 |
ENST00000527766.5 | hg38 | chr11 | 125,097,339 | 125,111,598 | 14,260 |
ENST00000682305.1 | hg38 | chr11 | 125,094,389 | 125,111,626 | 17,238 |
ENST00000532156.5 | hg38 | chr11 | 125,097,243 | 125,111,579 | 14,337 |
ENST00000532407.5 | hg38 | chr11 | 125,097,244 | 125,111,579 | 14,336 |
ENST00000529609.5 | hg38 | chr11 | 125,097,442 | 125,111,621 | 14,180 |
ENST00000279968.8 | hg38 | chr11 | 125,097,244 | 125,111,579 | 14,336 |
ENST00000527271.5 | hg38 | chr11 | 125,097,530 | 125,111,613 | 14,084 |
ENST00000531909.5 | hg19 | chr11 | 124,966,441 | 124,981,604 | 15,164 |
ENST00000279968.8 | hg19 | chr11 | 124,967,140 | 124,981,475 | 14,336 |
ENST00000526175.5 | hg19 | chr11 | 124,967,222 | 124,981,512 | 14,291 |
ENST00000527271.5 | hg19 | chr11 | 124,967,426 | 124,981,509 | 14,084 |
ENST00000527766.5 | hg19 | chr11 | 124,967,235 | 124,981,494 | 14,260 |
ENST00000528724.5 | hg19 | chr11 | 124,966,967 | 124,972,705 | 5,739 |
ENST00000529583.5 | hg19 | chr11 | 124,967,382 | 124,981,500 | 14,119 |
ENST00000529609.5 | hg19 | chr11 | 124,967,338 | 124,981,517 | 14,180 |
ENST00000532156.5 | hg19 | chr11 | 124,967,139 | 124,981,475 | 14,337 |
ENST00000532407.5 | hg19 | chr11 | 124,967,140 | 124,981,475 | 14,336 |
ENST00000682305.1 | hg19 | chr11 | 124,964,285 | 124,981,522 | 17,238 |
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