SLC22A18 solute carrier family 22 member 18
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 18 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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106 |
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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
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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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 | BWR1A |
SYNONYM | BWSCR1A |
SYNONYM | HET |
SYNONYM | IMPT1 |
SYNONYM | ITM |
SYNONYM | ORCTL2 |
SYNONYM | SLC22A1L |
SYNONYM | TSSC5 |
SYNONYM | p45-BWR1A |
MIM | 602631 OMIM |
HGNC | HGNC:10964 HGNC |
Ensembl | ENSG00000110628 Ensembl |
AllianceGenome | HGNC:10964 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000449793.6 | hg38 | chr11 | 2,902,283 | 2,925,227 | 22,945 |
ENST00000347936.6 | hg38 | chr11 | 2,899,721 | 2,925,246 | 25,526 |
ENST00000649076.2 | hg38 | chr11 | 2,902,278 | 2,925,246 | 22,969 |
ENST00000380574.5 | hg38 | chr11 | 2,902,420 | 2,925,246 | 22,827 |
ENST00000347936.6 | hg19 | chr11 | 2,920,951 | 2,946,476 | 25,526 |
ENST00000649076.2 | hg19 | chr11 | 2,923,508 | 2,946,476 | 22,969 |
ENST00000449793.6 | hg19 | chr11 | 2,923,513 | 2,946,457 | 22,945 |
ENST00000380574.5 | hg19 | chr11 | 2,923,650 | 2,946,476 | 22,827 |
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