SLC6A12 solute carrier family 6 member 12
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 8 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 50 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
68 |
 |
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
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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| 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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| 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 | BGT-1 |
| SYNONYM | BGT1 |
| SYNONYM | GAT2 |
| MIM | 603080 OMIM |
| HGNC | HGNC:11045 HGNC |
| Ensembl | ENSG00000111181 Ensembl |
| AllianceGenome | HGNC:11045 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000684302.1 | hg38 | chr12 | 190,081 | 214,157 | 24,077 |
| ENST00000359674.8 | hg38 | chr12 | 190,077 | 213,697 | 23,621 |
| ENST00000397296.6 | hg38 | chr12 | 190,077 | 210,605 | 20,529 |
| ENST00000536824.5 | hg38 | chr12 | 191,068 | 214,120 | 23,053 |
| ENST00000424061.6 | hg38 | chr12 | 190,136 | 213,338 | 23,203 |
| ENST00000359674.8 | hg19 | chr12 | 299,243 | 322,863 | 23,621 |
| ENST00000397296.6 | hg19 | chr12 | 299,243 | 319,771 | 20,529 |
| ENST00000424061.6 | hg19 | chr12 | 299,302 | 322,504 | 23,203 |
| ENST00000536824.5 | hg19 | chr12 | 300,234 | 323,286 | 23,053 |
| ENST00000684302.1 | hg19 | chr12 | 299,247 | 323,323 | 24,077 |
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