MMAB metabolism of cobalamin associated B
Information
- Symbol
- MMAB
- Type
- protein-coding
- Description
- metabolism of cobalamin associated B
- Entrez Gene ID
- 326625
- Genome
- hg19
- Position
- chr12:109,991,520-110,011,309
- Genome
- hg38
- Position
- chr12:109,553,715-109,573,504
- MIM
- 607568 OMIM
- HGNC
- HGNC:19331 HGNC
- Ensembl
- ENSG00000139428 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 112 |
| Likely pathogenic | 0 | 70 |
| Benign | 0 | 124 |
| Likely benign | 0 | 424 |
| Conflicting classifications of pathogenicity | 0 | 58 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 268 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
112 |
 |
824 |
 |
30 |
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 | ATR |
| SYNONYM | CFAP23 |
| SYNONYM | cblB |
| SYNONYM | cob |
| MIM | 607568 OMIM |
| HGNC | HGNC:19331 HGNC |
| Ensembl | ENSG00000139428 Ensembl |
| AllianceGenome | HGNC:19331 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000537236.2 | hg38 | chr12 | 109,567,818 | 109,573,580 | 5,763 |
| ENST00000545712.7 | hg38 | chr12 | 109,553,715 | 109,573,504 | 19,790 |
| ENST00000540016.5 | hg38 | chr12 | 109,556,697 | 109,573,497 | 16,801 |
| ENST00000545712.7 | hg19 | chr12 | 109,991,520 | 110,011,309 | 19,790 |
| ENST00000540016.5 | hg19 | chr12 | 109,994,502 | 110,011,302 | 16,801 |
| ENST00000537236.2 | hg19 | chr12 | 110,005,623 | 110,011,385 | 5,763 |
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