MBD3L1 methyl-CpG binding domain protein 3 like 1
Information
- Symbol
- MBD3L1
- Type
- protein-coding
- Description
- methyl-CpG binding domain protein 3 like 1
- Entrez Gene ID
- 85509
- Genome
- hg19
- Position
- chr19:8,943,053-8,953,995
- Genome
- hg38
- Position
- chr19:8,832,377-8,843,319
- MIM
- 607963 OMIM
- HGNC
- HGNC:15774 HGNC
- Ensembl
- ENSG00000170948 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
20 |
![]() |
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
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
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
|
Category | : |
|
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 | MBD3L |
MIM | 607963 OMIM |
HGNC | HGNC:15774 HGNC |
Ensembl | ENSG00000170948 Ensembl |
AllianceGenome | HGNC:15774 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000305625.2 | hg38 | chr19 | 8,842,593 | 8,843,340 | 748 |
ENST00000595891.2 | hg38 | chr19 | 8,832,377 | 8,843,319 | 10,943 |
ENST00000595891.2 | hg19 | chr19 | 8,943,053 | 8,953,995 | 10,943 |
ENST00000305625.2 | hg19 | chr19 | 8,953,269 | 8,954,016 | 748 |
Genome browser