MMADHC metabolism of cobalamin associated D
Information
- Symbol
- MMADHC
- Type
- protein-coding
- Description
- metabolism of cobalamin associated D
- Entrez Gene ID
- 27249
- Genome
- hg19
- Position
- chr2:150,426,158-150,444,116
- Genome
- hg38
- Position
- chr2:149,569,644-149,587,602
- MIM
- 611935 OMIM
- HGNC
- HGNC:25221 HGNC
- Ensembl
- ENSG00000168288 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 68 |
| Likely pathogenic | 0 | 56 |
| Benign | 0 | 62 |
| Likely benign | 0 | 370 |
| Conflicting classifications of pathogenicity | 0 | 28 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 122 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
86 |
 |
558 |
 |
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
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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 | C2orf25 |
| SYNONYM | CL25022 |
| SYNONYM | cblD |
| MIM | 611935 OMIM |
| HGNC | HGNC:25221 HGNC |
| Ensembl | ENSG00000168288 Ensembl |
| AllianceGenome | HGNC:25221 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000303319.10 | hg38 | chr2 | 149,569,637 | 149,587,775 | 18,139 |
| ENST00000428879.5 | hg38 | chr2 | 149,569,644 | 149,587,602 | 17,959 |
| ENST00000422782.2 | hg38 | chr2 | 149,569,672 | 149,587,778 | 18,107 |
| ENST00000303319.10 | hg19 | chr2 | 150,426,151 | 150,444,289 | 18,139 |
| ENST00000428879.5 | hg19 | chr2 | 150,426,158 | 150,444,116 | 17,959 |
| ENST00000422782.2 | hg19 | chr2 | 150,426,186 | 150,444,292 | 18,107 |
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