SLC7A3 solute carrier family 7 member 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 18 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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2 |
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60 |
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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 | ATRC3 |
| SYNONYM | CAT-3 |
| SYNONYM | CAT3 |
| MIM | 300443 OMIM |
| HGNC | HGNC:11061 HGNC |
| Ensembl | ENSG00000165349 Ensembl |
| AllianceGenome | HGNC:11061 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000298085.4 | hg38 | chrX | 70,925,588 | 70,931,125 | 5,538 |
| ENST00000374299.8 | hg38 | chrX | 70,925,579 | 70,931,096 | 5,518 |
| ENST00000374299.8 | hg19 | chrX | 70,145,429 | 70,150,946 | 5,518 |
| ENST00000298085.4 | hg19 | chrX | 70,145,438 | 70,150,975 | 5,538 |
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