FADS1 fatty acid desaturase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 6 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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16 |
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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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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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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | D5D |
SYNONYM | FADS6 |
SYNONYM | FADSD5 |
SYNONYM | LLCDL1 |
SYNONYM | TU12 |
MIM | 606148 OMIM |
HGNC | HGNC:3574 HGNC |
Ensembl | ENSG00000149485 Ensembl |
AllianceGenome | HGNC:3574 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000536991.5 | hg38 | chr11 | 61,802,007 | 61,806,528 | 4,522 |
ENST00000460649.5 | hg38 | chr11 | 61,802,218 | 61,804,680 | 2,463 |
ENST00000350997.12 | hg38 | chr11 | 61,799,627 | 61,817,003 | 17,377 |
ENST00000433932.5 | hg38 | chr11 | 61,802,058 | 61,816,148 | 14,091 |
ENST00000542506.5 | hg38 | chr11 | 61,802,313 | 61,815,291 | 12,979 |
ENST00000350997.12 | hg19 | chr11 | 61,567,099 | 61,584,475 | 17,377 |
ENST00000536991.5 | hg19 | chr11 | 61,569,479 | 61,574,000 | 4,522 |
ENST00000433932.5 | hg19 | chr11 | 61,569,530 | 61,583,620 | 14,091 |
ENST00000460649.5 | hg19 | chr11 | 61,569,690 | 61,572,152 | 2,463 |
ENST00000542506.5 | hg19 | chr11 | 61,569,785 | 61,582,763 | 12,979 |
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