ACADS acyl-CoA dehydrogenase short chain
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 6 | 68 |
Likely pathogenic | 0 | 134 |
Benign | 0 | 60 |
Likely benign | 0 | 216 |
Conflicting classifications of pathogenicity | 0 | 70 |
Uncertain significance | 0 | 346 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
162 |
![]() |
602 |
![]() |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 | ACAD3 |
SYNONYM | SCAD |
MIM | 606885 OMIM |
HGNC | HGNC:90 HGNC |
Ensembl | ENSG00000122971 Ensembl |
AllianceGenome | HGNC:90 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000411593.2 | hg38 | chr12 | 120,725,861 | 120,739,594 | 13,734 |
ENST00000242592.9 | hg38 | chr12 | 120,725,826 | 120,740,008 | 14,183 |
ENST00000242592.9 | hg19 | chr12 | 121,163,629 | 121,177,811 | 14,183 |
ENST00000411593.2 | hg19 | chr12 | 121,163,664 | 121,177,397 | 13,734 |
Genome browser