SLC47A1 solute carrier family 47 member 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 6 |
not provided | 2 | 0 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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70 |
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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 |
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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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 | MATE1 |
MIM | 609832 OMIM |
HGNC | HGNC:25588 HGNC |
Ensembl | ENSG00000142494 Ensembl |
AllianceGenome | HGNC:25588 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000436810.6 | hg38 | chr17 | 19,533,828 | 19,577,611 | 43,784 |
ENST00000571335.5 | hg38 | chr17 | 19,533,462 | 19,577,597 | 44,136 |
ENST00000575023.5 | hg38 | chr17 | 19,533,876 | 19,578,906 | 45,031 |
ENST00000395585.5 | hg38 | chr17 | 19,533,880 | 19,578,906 | 45,027 |
ENST00000270570.8 | hg38 | chr17 | 19,533,854 | 19,579,034 | 45,181 |
ENST00000571335.5 | hg19 | chr17 | 19,436,775 | 19,480,910 | 44,136 |
ENST00000436810.6 | hg19 | chr17 | 19,437,141 | 19,480,924 | 43,784 |
ENST00000270570.8 | hg19 | chr17 | 19,437,167 | 19,482,347 | 45,181 |
ENST00000575023.5 | hg19 | chr17 | 19,437,189 | 19,482,219 | 45,031 |
ENST00000395585.5 | hg19 | chr17 | 19,437,193 | 19,482,219 | 45,027 |
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