SLC6A9 solute carrier family 6 member 9
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 8 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 68 |
| Likely benign | 0 | 260 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 244 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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44 |
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536 |
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8 |
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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| 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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| Filtering | : |
| 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 | GCENSG |
| SYNONYM | GLYT1 |
| MIM | 601019 OMIM |
| HGNC | HGNC:11056 HGNC |
| Ensembl | ENSG00000196517 Ensembl |
| AllianceGenome | HGNC:11056 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000357730.6 | hg38 | chr1 | 43,997,528 | 44,017,325 | 19,798 |
| ENST00000475075.6 | hg38 | chr1 | 43,997,443 | 44,031,386 | 33,944 |
| ENST00000360584.6 | hg38 | chr1 | 43,997,528 | 44,017,325 | 19,798 |
| ENST00000673836.1 | hg38 | chr1 | 43,996,503 | 44,031,177 | 34,675 |
| ENST00000372310.8 | hg38 | chr1 | 43,996,483 | 44,031,462 | 34,980 |
| ENST00000372307.7 | hg38 | chr1 | 43,991,500 | 44,016,556 | 25,057 |
| ENST00000372306.7 | hg38 | chr1 | 43,991,831 | 44,031,360 | 39,530 |
| ENST00000372307.7 | hg19 | chr1 | 44,457,172 | 44,482,228 | 25,057 |
| ENST00000372306.7 | hg19 | chr1 | 44,457,503 | 44,497,032 | 39,530 |
| ENST00000372310.8 | hg19 | chr1 | 44,462,155 | 44,497,134 | 34,980 |
| ENST00000673836.1 | hg19 | chr1 | 44,462,175 | 44,496,849 | 34,675 |
| ENST00000475075.6 | hg19 | chr1 | 44,463,115 | 44,497,058 | 33,944 |
| ENST00000357730.6 | hg19 | chr1 | 44,463,200 | 44,482,997 | 19,798 |
| ENST00000360584.6 | hg19 | chr1 | 44,463,200 | 44,482,997 | 19,798 |
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