SLC25A22 solute carrier family 25 member 22
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 24 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 86 |
Likely benign | 0 | 442 |
Conflicting classifications of pathogenicity | 0 | 88 |
Uncertain significance | 0 | 456 |
Ranking
ClinVar | |
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0 |
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0 |
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234 |
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754 |
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6 |
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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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 |
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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 | DEE3 |
SYNONYM | EIEE3 |
SYNONYM | GC-1 |
SYNONYM | GC1 |
SYNONYM | NET44 |
MIM | 609302 OMIM |
HGNC | HGNC:19954 HGNC |
Ensembl | ENSG00000177542 Ensembl |
AllianceGenome | HGNC:19954 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000320230.9 | hg38 | chr11 | 790,475 | 796,263 | 5,789 |
ENST00000628067.3 | hg38 | chr11 | 790,475 | 798,281 | 7,807 |
ENST00000531214.5 | hg38 | chr11 | 791,644 | 797,995 | 6,352 |
ENST00000320230.9 | hg19 | chr11 | 790,475 | 796,263 | 5,789 |
ENST00000531214.5 | hg19 | chr11 | 791,644 | 797,995 | 6,352 |
ENST00000628067.3 | hg19 | chr11 | 790,475 | 798,281 | 7,807 |
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