SLC38A5 solute carrier family 38 member 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 10 |
not provided | 6 | 0 |
Uncertain significance | 0 | 22 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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32 |
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2 |
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 |
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SYNONYM | JM24 |
SYNONYM | SN2 |
SYNONYM | SNAT5 |
SYNONYM | pp7194 |
MIM | 300649 OMIM |
HGNC | HGNC:18070 HGNC |
Ensembl | ENSG00000017483 Ensembl |
AllianceGenome | HGNC:18070 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000595796.5 | hg38 | chrX | 48,458,537 | 48,470,177 | 11,641 |
ENST00000620913.5 | hg38 | chrX | 48,458,544 | 48,470,260 | 11,717 |
ENST00000619100.4 | hg38 | chrX | 48,458,539 | 48,467,493 | 8,955 |
ENST00000595796.5 | hg19 | chrX | 48,316,920 | 48,328,565 | 11,646 |
ENST00000619100.4 | hg19 | chrX | 48,316,922 | 48,325,880 | 8,959 |
ENST00000620913.5 | hg19 | chrX | 48,316,927 | 48,328,648 | 11,722 |
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