SLC22A1 solute carrier family 22 member 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 12 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 68 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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80 |
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2 |
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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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 | HOCT1 |
SYNONYM | OCT1 |
SYNONYM | oct1_cds |
MIM | 602607 OMIM |
HGNC | HGNC:10963 HGNC |
Ensembl | ENSG00000175003 Ensembl |
AllianceGenome | HGNC:10963 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000457470.6 | hg38 | chr6 | 160,121,936 | 160,158,582 | 36,647 |
ENST00000324965.8 | hg38 | chr6 | 160,121,936 | 160,158,551 | 36,616 |
ENST00000366963.9 | hg38 | chr6 | 160,121,815 | 160,158,718 | 36,904 |
ENST00000366963.9 | hg19 | chr6 | 160,542,847 | 160,579,750 | 36,904 |
ENST00000324965.8 | hg19 | chr6 | 160,542,968 | 160,579,583 | 36,616 |
ENST00000457470.6 | hg19 | chr6 | 160,542,968 | 160,579,614 | 36,647 |
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