ACMSD aminocarboxymuconate semialdehyde decarboxylase
Information
- Symbol
- ACMSD
- Type
- protein-coding
- Description
- aminocarboxymuconate semialdehyde decarboxylase
- Entrez Gene ID
- 130013
- Genome
- hg19
- Position
- chr2:135,596,186-135,659,604
- Genome
- hg38
- Position
- chr2:134,838,616-134,902,034
- MIM
- 608889 OMIM
- HGNC
- HGNC:19288 HGNC
- Ensembl
- ENSG00000153086 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 54 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
62 |
 |
0 |
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 |
|---|---|
| MIM | 608889 OMIM |
| HGNC | HGNC:19288 HGNC |
| Ensembl | ENSG00000153086 Ensembl |
| AllianceGenome | HGNC:19288 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000356140.10 | hg38 | chr2 | 134,838,616 | 134,902,034 | 63,419 |
| ENST00000392928.5 | hg38 | chr2 | 134,838,618 | 134,902,034 | 63,417 |
| ENST00000356140.10 | hg19 | chr2 | 135,596,186 | 135,659,604 | 63,419 |
| ENST00000392928.5 | hg19 | chr2 | 135,596,188 | 135,659,604 | 63,417 |
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