HADH hydroxyacyl-CoA dehydrogenase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 28 |
Likely pathogenic | 0 | 34 |
Benign | 0 | 56 |
Likely benign | 0 | 312 |
Conflicting classifications of pathogenicity | 0 | 98 |
Likely risk allele | 0 | 4 |
Uncertain risk allele | 0 | 24 |
Uncertain significance | 0 | 142 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
82 |
![]() |
458 |
![]() |
8 |
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 | HAD |
SYNONYM | HADH1 |
SYNONYM | HADHSC |
SYNONYM | HCDH |
SYNONYM | HHF4 |
SYNONYM | MSCHAD |
SYNONYM | SCHAD |
MIM | 601609 OMIM |
HGNC | HGNC:4799 HGNC |
Ensembl | ENSG00000138796 Ensembl |
AllianceGenome | HGNC:4799 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000603302.5 | hg38 | chr4 | 107,989,714 | 108,035,174 | 45,461 |
ENST00000403312.6 | hg38 | chr4 | 107,989,896 | 108,035,118 | 45,223 |
ENST00000626637.2 | hg38 | chr4 | 108,004,482 | 108,034,923 | 30,442 |
ENST00000505878.4 | hg38 | chr4 | 107,989,714 | 108,034,861 | 45,148 |
ENST00000638621.1 | hg38 | chr4 | 107,989,854 | 108,034,488 | 44,635 |
ENST00000309522.8 | hg38 | chr4 | 107,989,889 | 108,035,171 | 45,283 |
ENST00000505878.4 | hg19 | chr4 | 108,910,870 | 108,956,017 | 45,148 |
ENST00000403312.6 | hg19 | chr4 | 108,911,052 | 108,956,274 | 45,223 |
ENST00000309522.8 | hg19 | chr4 | 108,911,045 | 108,956,327 | 45,283 |
ENST00000626637.2 | hg19 | chr4 | 108,925,638 | 108,956,079 | 30,442 |
ENST00000603302.5 | hg19 | chr4 | 108,910,870 | 108,956,330 | 45,461 |
ENST00000638621.1 | hg19 | chr4 | 108,911,010 | 108,955,644 | 44,635 |
Genome browser