ALDH1L1 aldehyde dehydrogenase 1 family member L1
Information
- Symbol
- ALDH1L1
- Type
- protein-coding
- Description
- aldehyde dehydrogenase 1 family member L1
- Entrez Gene ID
- 10840
- Genome
- hg19
- Position
- chr3:125,822,412-125,900,029
- Genome
- hg38
- Position
- chr3:126,103,569-126,181,186
- MIM
- 600249 OMIM
- HGNC
- HGNC:3978 HGNC
- Ensembl
- ENSG00000144908 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 24 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 114 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
4 |
 |
140 |
 |
2 |
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
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| 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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| 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
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| Category | : |
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| 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 | 10-FTHFDH |
| SYNONYM | 10-fTHF |
| SYNONYM | FDH |
| SYNONYM | FTHFD |
| MIM | 600249 OMIM |
| HGNC | HGNC:3978 HGNC |
| Ensembl | ENSG00000144908 Ensembl |
| AllianceGenome | HGNC:3978 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000452905.6 | hg38 | chr3 | 126,103,573 | 126,180,586 | 77,014 |
| ENST00000393434.7 | hg38 | chr3 | 126,103,570 | 126,180,586 | 77,017 |
| ENST00000393431.6 | hg38 | chr3 | 126,103,575 | 126,180,575 | 77,001 |
| ENST00000472186.5 | hg38 | chr3 | 126,103,571 | 126,179,919 | 76,349 |
| ENST00000273450.7 | hg38 | chr3 | 126,103,569 | 126,181,186 | 77,618 |
| ENST00000455064.6 | hg38 | chr3 | 126,103,562 | 126,180,802 | 77,241 |
| ENST00000273450.7 | hg19 | chr3 | 125,822,412 | 125,900,029 | 77,618 |
| ENST00000393434.7 | hg19 | chr3 | 125,822,413 | 125,899,429 | 77,017 |
| ENST00000472186.5 | hg19 | chr3 | 125,822,414 | 125,898,762 | 76,349 |
| ENST00000452905.6 | hg19 | chr3 | 125,822,416 | 125,899,429 | 77,014 |
| ENST00000393431.6 | hg19 | chr3 | 125,822,418 | 125,899,418 | 77,001 |
| ENST00000455064.6 | hg19 | chr3 | 125,822,405 | 125,899,645 | 77,241 |
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