SLC22A6 solute carrier family 22 member 6
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
50 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | HOAT1 |
| SYNONYM | OAT1 |
| SYNONYM | PAHT |
| SYNONYM | ROAT1 |
| MIM | 607582 OMIM |
| HGNC | HGNC:10970 HGNC |
| Ensembl | ENSG00000197901 Ensembl |
| AllianceGenome | HGNC:10970 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000377871.7 | hg38 | chr11 | 62,976,602 | 62,984,957 | 8,356 |
| ENST00000421062.2 | hg38 | chr11 | 62,976,794 | 62,984,690 | 7,897 |
| ENST00000458333.6 | hg38 | chr11 | 62,976,794 | 62,984,690 | 7,897 |
| ENST00000360421.9 | hg38 | chr11 | 62,976,597 | 62,984,967 | 8,371 |
| ENST00000360421.9 | hg19 | chr11 | 62,744,069 | 62,752,439 | 8,371 |
| ENST00000377871.7 | hg19 | chr11 | 62,744,074 | 62,752,429 | 8,356 |
| ENST00000421062.2 | hg19 | chr11 | 62,744,266 | 62,752,162 | 7,897 |
| ENST00000458333.6 | hg19 | chr11 | 62,744,266 | 62,752,162 | 7,897 |
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