ALDH3A2 aldehyde dehydrogenase 3 family member A2
Information
- Symbol
- ALDH3A2
- Type
- protein-coding
- Description
- aldehyde dehydrogenase 3 family member A2
- Entrez Gene ID
- 224
- Genome
- hg19
- Position
- chr17:19,552,064-19,580,909
- Genome
- hg38
- Position
- chr17:19,648,751-19,677,596
- MIM
- 609523 OMIM
- HGNC
- HGNC:403 HGNC
- Ensembl
- ENSG00000072210 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 168 |
| Likely pathogenic | 1 | 190 |
| Benign | 0 | 70 |
| Likely benign | 0 | 556 |
| Conflicting classifications of pathogenicity | 0 | 58 |
| no classification for the single variant | 0 | 4 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 262 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
150 |
![]() |
1,000 |
![]() |
26 |
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
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| Category | : |
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| 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
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| Category | : |
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| 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 | ALDH10 |
| SYNONYM | FALDH |
| SYNONYM | SLS |
| MIM | 609523 OMIM |
| HGNC | HGNC:403 HGNC |
| Ensembl | ENSG00000072210 Ensembl |
| AllianceGenome | HGNC:403 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000579855.5 | hg38 | chr17 | 19,648,751 | 19,677,598 | 28,848 |
| ENST00000673136.1 | hg38 | chr17 | 19,648,153 | 19,677,567 | 29,415 |
| ENST00000176643.11 | hg38 | chr17 | 19,648,751 | 19,677,596 | 28,846 |
| ENST00000395575.7 | hg38 | chr17 | 19,648,786 | 19,677,531 | 28,746 |
| ENST00000630662.2 | hg38 | chr17 | 19,648,806 | 19,675,742 | 26,937 |
| ENST00000672357.1 | hg38 | chr17 | 19,648,723 | 19,675,664 | 26,942 |
| ENST00000571163.2 | hg38 | chr17 | 19,663,374 | 19,675,744 | 12,371 |
| ENST00000581518.6 | hg38 | chr17 | 19,648,136 | 19,677,130 | 28,995 |
| ENST00000671878.1 | hg38 | chr17 | 19,648,781 | 19,685,700 | 36,920 |
| ENST00000672465.1 | hg38 | chr17 | 19,648,174 | 19,685,760 | 37,587 |
| ENST00000339618.8 | hg38 | chr17 | 19,648,751 | 19,677,596 | 28,846 |
| ENST00000626500.2 | hg38 | chr17 | 19,648,526 | 19,655,358 | 6,833 |
| ENST00000631291.2 | hg38 | chr17 | 19,648,526 | 19,677,590 | 29,065 |
| ENST00000581518.6 | hg19 | chr17 | 19,551,449 | 19,580,443 | 28,995 |
| ENST00000176643.11 | hg19 | chr17 | 19,552,064 | 19,580,909 | 28,846 |
| ENST00000339618.8 | hg19 | chr17 | 19,552,064 | 19,580,909 | 28,846 |
| ENST00000395575.7 | hg19 | chr17 | 19,552,099 | 19,580,844 | 28,746 |
| ENST00000571163.2 | hg19 | chr17 | 19,566,687 | 19,579,057 | 12,371 |
| ENST00000579855.5 | hg19 | chr17 | 19,552,064 | 19,580,911 | 28,848 |
| ENST00000673136.1 | hg19 | chr17 | 19,551,466 | 19,580,880 | 29,415 |
| ENST00000672465.1 | hg19 | chr17 | 19,551,487 | 19,589,073 | 37,587 |
| ENST00000626500.2 | hg19 | chr17 | 19,551,839 | 19,558,671 | 6,833 |
| ENST00000631291.2 | hg19 | chr17 | 19,551,839 | 19,580,903 | 29,065 |
| ENST00000672357.1 | hg19 | chr17 | 19,552,036 | 19,578,977 | 26,942 |
| ENST00000671878.1 | hg19 | chr17 | 19,552,094 | 19,589,013 | 36,920 |
| ENST00000630662.2 | hg19 | chr17 | 19,552,119 | 19,579,055 | 26,937 |
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