FADS2 fatty acid desaturase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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26 |
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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 | D6D |
SYNONYM | DES6 |
SYNONYM | FADSD6 |
SYNONYM | LLCDL2 |
SYNONYM | SLL0262 |
SYNONYM | TU13 |
MIM | 606149 OMIM |
HGNC | HGNC:3575 HGNC |
Ensembl | ENSG00000134824 Ensembl |
AllianceGenome | HGNC:3575 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000517839.1 | hg38 | chr11 | 61,816,546 | 61,826,512 | 9,967 |
ENST00000257261.10 | hg38 | chr11 | 61,816,256 | 61,867,354 | 51,099 |
ENST00000521849.5 | hg38 | chr11 | 61,828,280 | 61,864,221 | 35,942 |
ENST00000522056.5 | hg38 | chr11 | 61,816,404 | 61,865,957 | 49,554 |
ENST00000278840.9 | hg38 | chr11 | 61,828,300 | 61,867,354 | 39,055 |
ENST00000257261.10 | hg19 | chr11 | 61,583,728 | 61,634,826 | 51,099 |
ENST00000522056.5 | hg19 | chr11 | 61,583,876 | 61,633,429 | 49,554 |
ENST00000517839.1 | hg19 | chr11 | 61,584,018 | 61,593,984 | 9,967 |
ENST00000521849.5 | hg19 | chr11 | 61,595,752 | 61,631,693 | 35,942 |
ENST00000278840.9 | hg19 | chr11 | 61,595,772 | 61,634,826 | 39,055 |
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