FAR1 fatty acyl-CoA reductase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 18 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 48 |
Likely benign | 0 | 308 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 286 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
64 |
![]() |
588 |
![]() |
6 |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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 |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
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 | CSPSD |
SYNONYM | MLSTD2 |
SYNONYM | PFCRD |
SYNONYM | SDR10E1 |
MIM | 616107 OMIM |
HGNC | HGNC:26222 HGNC |
Ensembl | ENSG00000197601 Ensembl |
AllianceGenome | HGNC:26222 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000714157.1 | hg38 | chr11 | 13,668,720 | 13,730,285 | 61,566 |
ENST00000354817.8 | hg38 | chr11 | 13,668,668 | 13,732,346 | 63,679 |
ENST00000354817.8 | hg19 | chr11 | 13,690,215 | 13,753,893 | 63,679 |
ENST00000714157.1 | hg19 | chr11 | 13,690,267 | 13,751,832 | 61,566 |
Genome browser