NAAA N-acylethanolamine acid amidase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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56 |
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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 |
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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 | ASAHL |
SYNONYM | PLT |
MIM | 607469 OMIM |
HGNC | HGNC:736 HGNC |
Ensembl | ENSG00000138744 Ensembl |
AllianceGenome | HGNC:736 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000505594.1 | hg38 | chr4 | 75,919,342 | 75,940,260 | 20,919 |
ENST00000507187.2 | hg38 | chr4 | 75,934,891 | 75,940,983 | 6,093 |
ENST00000286733.9 | hg38 | chr4 | 75,913,660 | 75,941,013 | 27,354 |
ENST00000507956.5 | hg38 | chr4 | 75,917,467 | 75,940,973 | 23,507 |
ENST00000286733.9 | hg19 | chr4 | 76,834,813 | 76,862,166 | 27,354 |
ENST00000507956.5 | hg19 | chr4 | 76,838,620 | 76,862,126 | 23,507 |
ENST00000505594.1 | hg19 | chr4 | 76,840,495 | 76,861,413 | 20,919 |
ENST00000507187.2 | hg19 | chr4 | 76,856,044 | 76,862,136 | 6,093 |
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