SLC10A3 solute carrier family 10 member 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 8 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 28 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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38 |
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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 |
---|---|
SYNONYM | DXS253E |
SYNONYM | P3 |
MIM | 312090 OMIM |
HGNC | HGNC:22979 HGNC |
Ensembl | ENSG00000126903 Ensembl |
AllianceGenome | HGNC:22979 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000393587.4 | hg38 | chrX | 154,487,343 | 154,490,663 | 3,321 |
ENST00000393586.1 | hg38 | chrX | 154,487,311 | 154,490,628 | 3,318 |
ENST00000263512.5 | hg38 | chrX | 154,487,306 | 154,490,690 | 3,385 |
ENST00000369649.8 | hg38 | chrX | 154,487,306 | 154,490,614 | 3,309 |
ENST00000651600.1 | hg38 | chrX | 154,487,311 | 154,490,629 | 3,319 |
ENST00000369649.8 | hg19 | chrX | 153,715,645 | 153,718,953 | 3,309 |
ENST00000263512.5 | hg19 | chrX | 153,715,645 | 153,719,029 | 3,385 |
ENST00000393586.1 | hg19 | chrX | 153,715,650 | 153,718,967 | 3,318 |
ENST00000651600.1 | hg19 | chrX | 153,715,650 | 153,718,968 | 3,319 |
ENST00000393587.4 | hg19 | chrX | 153,715,682 | 153,719,002 | 3,321 |
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