SLC30A5 solute carrier family 30 member 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 4 |
Benign | 0 | 10 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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68 |
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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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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 | ZNT5 |
SYNONYM | ZNTL1 |
SYNONYM | ZTL1 |
SYNONYM | ZnT-5 |
MIM | 607819 OMIM |
HGNC | HGNC:19089 HGNC |
Ensembl | ENSG00000145740 Ensembl |
AllianceGenome | HGNC:19089 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000502979.1 | hg38 | chr5 | 69,094,198 | 69,104,434 | 10,237 |
ENST00000380860.8 | hg38 | chr5 | 69,093,991 | 69,104,740 | 10,750 |
ENST00000396591.8 | hg38 | chr5 | 69,094,014 | 69,131,069 | 37,056 |
ENST00000380860.8 | hg19 | chr5 | 68,389,818 | 68,400,567 | 10,750 |
ENST00000396591.8 | hg19 | chr5 | 68,389,841 | 68,426,896 | 37,056 |
ENST00000502979.1 | hg19 | chr5 | 68,390,025 | 68,400,261 | 10,237 |
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