SLC43A3 solute carrier family 43 member 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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56 |
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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
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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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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 |
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Target data | : |
MGeND data only
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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 | EEG1 |
SYNONYM | ENBT1 |
SYNONYM | FOAP-13 |
SYNONYM | PRO1659 |
SYNONYM | SEEEG-1 |
MIM | 618034 OMIM |
HGNC | HGNC:17466 HGNC |
Ensembl | ENSG00000134802 Ensembl |
AllianceGenome | HGNC:17466 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000533524.5 | hg38 | chr11 | 57,407,770 | 57,427,121 | 19,352 |
ENST00000352187.5 | hg38 | chr11 | 57,406,956 | 57,427,580 | 20,625 |
ENST00000529554.5 | hg38 | chr11 | 57,407,406 | 57,426,752 | 19,347 |
ENST00000395124.6 | hg38 | chr11 | 57,406,954 | 57,427,121 | 20,168 |
ENST00000395123.6 | hg38 | chr11 | 57,406,954 | 57,426,945 | 19,992 |
ENST00000395123.6 | hg19 | chr11 | 57,174,427 | 57,194,418 | 19,992 |
ENST00000395124.6 | hg19 | chr11 | 57,174,427 | 57,194,594 | 20,168 |
ENST00000352187.5 | hg19 | chr11 | 57,174,429 | 57,195,053 | 20,625 |
ENST00000529554.5 | hg19 | chr11 | 57,174,879 | 57,194,225 | 19,347 |
ENST00000533524.5 | hg19 | chr11 | 57,175,243 | 57,194,594 | 19,352 |
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