SLC1A4 solute carrier family 1 member 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 36 |
Likely pathogenic | 0 | 20 |
Benign | 0 | 70 |
Likely benign | 0 | 464 |
Conflicting classifications of pathogenicity | 0 | 14 |
not provided | 0 | 2 |
Uncertain significance | 0 | 178 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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64 |
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670 |
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18 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 | ASCT1 |
SYNONYM | SATT |
SYNONYM | SPATCCM |
MIM | 600229 OMIM |
HGNC | HGNC:10942 HGNC |
Ensembl | ENSG00000115902 Ensembl |
AllianceGenome | HGNC:10942 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000531327.5 | hg38 | chr2 | 64,988,490 | 65,021,394 | 32,905 |
ENST00000234256.4 | hg38 | chr2 | 64,989,399 | 65,023,865 | 34,467 |
ENST00000531327.5 | hg19 | chr2 | 65,215,624 | 65,248,528 | 32,905 |
ENST00000234256.4 | hg19 | chr2 | 65,216,533 | 65,250,999 | 34,467 |
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