SLC17A3 solute carrier family 17 member 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 4 |
| association | 0 | 2 |
| not provided | 19 | 0 |
| risk factor | 0 | 2 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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60 |
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4 |
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 | GOUT4 |
| SYNONYM | NPT4 |
| SYNONYM | UAQTL4 |
| MIM | 611034 OMIM |
| HGNC | HGNC:10931 HGNC |
| Ensembl | ENSG00000124564 Ensembl |
| AllianceGenome | HGNC:10931 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000360657.7 | hg38 | chr6 | 25,845,100 | 25,882,286 | 37,187 |
| ENST00000397060.8 | hg38 | chr6 | 25,844,856 | 25,874,243 | 29,388 |
| ENST00000361703.10 | hg38 | chr6 | 25,845,100 | 25,874,212 | 29,113 |
| ENST00000397060.8 | hg19 | chr6 | 25,845,084 | 25,874,471 | 29,388 |
| ENST00000361703.10 | hg19 | chr6 | 25,845,328 | 25,874,440 | 29,113 |
| ENST00000360657.7 | hg19 | chr6 | 25,845,328 | 25,882,514 | 37,187 |
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