MCL1 MCL1 apoptosis regulator, BCL2 family member
Information
- Symbol
- MCL1
- Type
- protein-coding
- Description
- MCL1 apoptosis regulator, BCL2 family member
- Entrez Gene ID
- 4170
- Genome
- hg19
- Position
- chr1:150,547,034-150,552,086
- Genome
- hg38
- Position
- chr1:150,574,558-150,579,610
- MIM
- 159552 OMIM
- HGNC
- HGNC:6943 HGNC
- Ensembl
- ENSG00000143384 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 4 |
| not provided | 108 | 0 |
| Uncertain significance | 0 | 18 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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26 |
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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
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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| 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 | BCL2L3 |
| SYNONYM | EAT |
| SYNONYM | MCL1-ES |
| SYNONYM | MCL1L |
| SYNONYM | MCL1S |
| SYNONYM | Mcl-1 |
| SYNONYM | TM |
| SYNONYM | bcl2-L-3 |
| SYNONYM | mcl1/EAT |
| MIM | 159552 OMIM |
| HGNC | HGNC:6943 HGNC |
| Ensembl | ENSG00000143384 Ensembl |
| AllianceGenome | HGNC:6943 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000620947.4 | hg38 | chr1 | 150,574,551 | 150,579,738 | 5,188 |
| ENST00000369026.3 | hg38 | chr1 | 150,574,558 | 150,579,610 | 5,053 |
| ENST00000307940.3 | hg38 | chr1 | 150,577,070 | 150,579,530 | 2,461 |
| ENST00000678610.1 | hg38 | chr1 | 150,574,176 | 150,579,597 | 5,422 |
| ENST00000678770.1 | hg38 | chr1 | 150,563,102 | 150,579,610 | 16,509 |
| ENST00000678770.1 | hg19 | chr1 | 150,535,578 | 150,552,086 | 16,509 |
| ENST00000678610.1 | hg19 | chr1 | 150,546,652 | 150,552,073 | 5,422 |
| ENST00000620947.4 | hg19 | chr1 | 150,547,027 | 150,552,214 | 5,188 |
| ENST00000369026.3 | hg19 | chr1 | 150,547,034 | 150,552,086 | 5,053 |
| ENST00000307940.3 | hg19 | chr1 | 150,549,546 | 150,552,006 | 2,461 |
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