SLC43A1 solute carrier family 43 member 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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90 |
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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
[No Data.]
Locus Zoom
Variants
Search Word
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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 | LAT3 |
SYNONYM | PB39 |
SYNONYM | POV1 |
SYNONYM | R00504 |
MIM | 603733 OMIM |
HGNC | HGNC:9225 HGNC |
Ensembl | ENSG00000149150 Ensembl |
AllianceGenome | HGNC:9225 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000278426.8 | hg38 | chr11 | 57,484,534 | 57,515,702 | 31,169 |
ENST00000528450.5 | hg38 | chr11 | 57,484,536 | 57,514,885 | 30,350 |
ENST00000278426.8 | hg19 | chr11 | 57,252,007 | 57,283,175 | 31,169 |
ENST00000528450.5 | hg19 | chr11 | 57,252,009 | 57,282,358 | 30,350 |
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