FASN fatty acid synthase
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 236 |
| Likely benign | 0 | 2,038 |
| Conflicting classifications of pathogenicity | 0 | 40 |
| Uncertain significance | 0 | 1,952 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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358 |
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3,818 |
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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
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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| Target data | : |
MGeND data only
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | FAS |
| SYNONYM | OA-519 |
| SYNONYM | SDR27X1 |
| MIM | 600212 OMIM |
| HGNC | HGNC:3594 HGNC |
| Ensembl | ENSG00000169710 Ensembl |
| AllianceGenome | HGNC:3594 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000634990.1 | hg38 | chr17 | 82,078,340 | 82,098,187 | 19,848 |
| ENST00000306749.4 | hg38 | chr17 | 82,078,338 | 82,098,236 | 19,899 |
| ENST00000306749.4 | hg19 | chr17 | 80,036,214 | 80,056,112 | 19,899 |
| ENST00000634990.1 | hg19 | chr17 | 80,036,216 | 80,056,063 | 19,848 |
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