SLC37A4 solute carrier family 37 member 4
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 24 | 205 |
| Likely pathogenic | 0 | 159 |
| Benign | 0 | 72 |
| Likely benign | 0 | 720 |
| Conflicting classifications of pathogenicity | 0 | 96 |
| not provided | 0 | 18 |
| Uncertain significance | 0 | 772 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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457 |
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1,388 |
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14 |
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 | CDG2W |
| SYNONYM | G6PT |
| SYNONYM | G6PT1 |
| SYNONYM | G6PT2 |
| SYNONYM | G6PT3 |
| SYNONYM | GSD1b |
| SYNONYM | GSD1c |
| SYNONYM | GSD1d |
| SYNONYM | PRO0685 |
| SYNONYM | SPX4 |
| SYNONYM | TRG-19 |
| SYNONYM | TRG19 |
| MIM | 602671 OMIM |
| HGNC | HGNC:4061 HGNC |
| Ensembl | ENSG00000137700 Ensembl |
| AllianceGenome | HGNC:4061 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000538950.5 | hg38 | chr11 | 119,024,351 | 119,030,906 | 6,556 |
| ENST00000330775.9 | hg38 | chr11 | 119,024,351 | 119,030,906 | 6,556 |
| ENST00000545985.5 | hg38 | chr11 | 119,024,351 | 119,030,906 | 6,556 |
| ENST00000357590.9 | hg38 | chr11 | 119,024,351 | 119,030,906 | 6,556 |
| ENST00000330775.9 | hg19 | chr11 | 118,895,061 | 118,901,616 | 6,556 |
| ENST00000357590.9 | hg19 | chr11 | 118,895,061 | 118,901,616 | 6,556 |
| ENST00000545985.5 | hg19 | chr11 | 118,895,061 | 118,901,616 | 6,556 |
| ENST00000538950.5 | hg19 | chr11 | 118,895,061 | 118,901,616 | 6,556 |
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