ABCA9 ATP binding cassette subfamily A member 9
Information
- Symbol
- ABCA9
- Type
- protein-coding
- Description
- ATP binding cassette subfamily A member 9
- Entrez Gene ID
- 10350
- Genome
- hg19
- Position
- chr17:66,970,629-67,057,068
- Genome
- hg38
- Position
- chr17:68,974,488-69,060,927
- MIM
- 612507 OMIM
- HGNC
- HGNC:39 HGNC
- Ensembl
- ENSG00000154258 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 22 |
Uncertain significance | 0 | 174 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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196 |
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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
[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 |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | EST640918 |
MIM | 612507 OMIM |
HGNC | HGNC:39 HGNC |
Ensembl | ENSG00000154258 Ensembl |
AllianceGenome | HGNC:39 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000340001.9 | hg38 | chr17 | 68,974,488 | 69,060,927 | 86,440 |
ENST00000453985.6 | hg38 | chr17 | 68,974,632 | 69,060,924 | 86,293 |
ENST00000495634.5 | hg38 | chr17 | 69,042,915 | 69,060,906 | 17,992 |
ENST00000340001.9 | hg19 | chr17 | 66,970,629 | 67,057,068 | 86,440 |
ENST00000453985.6 | hg19 | chr17 | 66,970,773 | 67,057,065 | 86,293 |
ENST00000495634.5 | hg19 | chr17 | 67,039,056 | 67,057,047 | 17,992 |
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