SLC13A2 solute carrier family 13 member 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 60 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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60 |
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4 |
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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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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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 | NADC1 |
SYNONYM | NaCT |
SYNONYM | NaDC-1 |
SYNONYM | SDCT1 |
MIM | 604148 OMIM |
HGNC | HGNC:10917 HGNC |
Ensembl | ENSG00000007216 Ensembl |
AllianceGenome | HGNC:10917 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000314669.10 | hg38 | chr17 | 28,473,644 | 28,497,781 | 24,138 |
ENST00000444914.7 | hg38 | chr17 | 28,473,293 | 28,497,778 | 24,486 |
ENST00000579281.5 | hg38 | chr17 | 28,473,738 | 28,497,694 | 23,957 |
ENST00000444914.7 | hg19 | chr17 | 26,800,311 | 26,824,796 | 24,486 |
ENST00000314669.10 | hg19 | chr17 | 26,800,662 | 26,824,799 | 24,138 |
ENST00000579281.5 | hg19 | chr17 | 26,800,756 | 26,824,712 | 23,957 |
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