SLC7A9 solute carrier family 7 member 9
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 4 | 64 |
Likely pathogenic | 0 | 48 |
Benign | 0 | 124 |
Likely benign | 0 | 130 |
Conflicting classifications of pathogenicity | 0 | 52 |
Uncertain significance | 0 | 186 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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110 |
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380 |
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34 |
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 | BAT1 |
SYNONYM | CSNU3 |
MIM | 604144 OMIM |
HGNC | HGNC:11067 HGNC |
Ensembl | ENSG00000021488 Ensembl |
AllianceGenome | HGNC:11067 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000023064.9 | hg38 | chr19 | 32,830,511 | 32,869,767 | 39,257 |
ENST00000590341.5 | hg38 | chr19 | 32,830,509 | 32,869,742 | 39,234 |
ENST00000587772.1 | hg38 | chr19 | 32,830,620 | 32,869,764 | 39,145 |
ENST00000590341.5 | hg19 | chr19 | 33,321,415 | 33,360,648 | 39,234 |
ENST00000023064.9 | hg19 | chr19 | 33,321,417 | 33,360,673 | 39,257 |
ENST00000587772.1 | hg19 | chr19 | 33,321,526 | 33,360,670 | 39,145 |
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