SLC13A4 solute carrier family 13 member 4
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
52 |
 |
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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| 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 | NAS2 |
| SYNONYM | SUT-1 |
| SYNONYM | SUT1 |
| MIM | 604309 OMIM |
| HGNC | HGNC:15827 HGNC |
| Ensembl | ENSG00000164707 Ensembl |
| AllianceGenome | HGNC:15827 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000354042.8 | hg38 | chr7 | 135,681,237 | 135,728,186 | 46,950 |
| ENST00000422620.2 | hg38 | chr7 | 135,681,231 | 135,729,258 | 48,028 |
| ENST00000713946.1 | hg38 | chr7 | 135,681,277 | 135,728,187 | 46,911 |
| ENST00000682651.1 | hg38 | chr7 | 135,681,231 | 135,728,186 | 46,956 |
| ENST00000378428.4 | hg38 | chr7 | 135,681,231 | 135,729,226 | 47,996 |
| ENST00000682651.1 | hg19 | chr7 | 135,365,979 | 135,412,934 | 46,956 |
| ENST00000378428.4 | hg19 | chr7 | 135,365,979 | 135,413,974 | 47,996 |
| ENST00000422620.2 | hg19 | chr7 | 135,365,979 | 135,414,006 | 48,028 |
| ENST00000354042.8 | hg19 | chr7 | 135,365,985 | 135,412,934 | 46,950 |
| ENST00000713946.1 | hg19 | chr7 | 135,366,025 | 135,412,935 | 46,911 |
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