SLC13A3 solute carrier family 13 member 3
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 36 |
Likely benign | 0 | 110 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 204 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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42 |
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304 |
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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
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 | ARLIAK |
SYNONYM | NADC3 |
SYNONYM | NaC3 |
SYNONYM | SDCT2 |
MIM | 606411 OMIM |
HGNC | HGNC:14430 HGNC |
Ensembl | ENSG00000158296 Ensembl |
AllianceGenome | HGNC:14430 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000495082.5 | hg38 | chr20 | 46,559,994 | 46,613,886 | 53,893 |
ENST00000290317.9 | hg38 | chr20 | 46,557,823 | 46,670,139 | 112,317 |
ENST00000417157.2 | hg38 | chr20 | 46,608,709 | 46,670,139 | 61,431 |
ENST00000413164.6 | hg38 | chr20 | 46,559,711 | 46,651,459 | 91,749 |
ENST00000472148.5 | hg38 | chr20 | 46,558,429 | 46,670,139 | 111,711 |
ENST00000279027.9 | hg38 | chr20 | 46,557,828 | 46,651,459 | 93,632 |
ENST00000290317.9 | hg19 | chr20 | 45,186,462 | 45,298,778 | 112,317 |
ENST00000279027.9 | hg19 | chr20 | 45,186,467 | 45,280,098 | 93,632 |
ENST00000472148.5 | hg19 | chr20 | 45,187,068 | 45,298,778 | 111,711 |
ENST00000413164.6 | hg19 | chr20 | 45,188,350 | 45,280,098 | 91,749 |
ENST00000495082.5 | hg19 | chr20 | 45,188,633 | 45,242,525 | 53,893 |
ENST00000417157.2 | hg19 | chr20 | 45,237,348 | 45,298,778 | 61,431 |
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