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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ATRC3 |
SYNONYM | CAT-3 |
SYNONYM | CAT3 |
MIM | 300443 OMIM |
HGNC | HGNC:11061 HGNC |
Ensembl | ENSG00000165349 Ensembl |
AllianceGenome | HGNC:11061 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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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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