MED23 mediator complex subunit 23
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 148 |
Likely pathogenic | 0 | 130 |
Benign | 0 | 46 |
Likely benign | 0 | 504 |
Conflicting classifications of pathogenicity | 0 | 40 |
not provided | 2 | 10 |
Uncertain significance | 0 | 450 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
174 |
![]() |
1,044 |
![]() |
20 |
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
|
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 | ARC130 |
SYNONYM | CRSP130 |
SYNONYM | CRSP133 |
SYNONYM | CRSP3 |
SYNONYM | DRIP130 |
SYNONYM | MRT18 |
SYNONYM | SUR-2 |
SYNONYM | SUR2 |
MIM | 605042 OMIM |
HGNC | HGNC:2372 HGNC |
Ensembl | ENSG00000112282 Ensembl |
AllianceGenome | HGNC:2372 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000354577.8 | hg38 | chr6 | 131,573,966 | 131,628,205 | 54,240 |
ENST00000539158.1 | hg38 | chr6 | 131,602,299 | 131,628,060 | 25,762 |
ENST00000368058.5 | hg38 | chr6 | 131,587,245 | 131,628,066 | 40,822 |
ENST00000368053.8 | hg38 | chr6 | 131,598,251 | 131,628,199 | 29,949 |
ENST00000368068.8 | hg38 | chr6 | 131,586,732 | 131,628,242 | 41,511 |
ENST00000368060.7 | hg38 | chr6 | 131,586,749 | 131,628,229 | 41,481 |
ENST00000354577.8 | hg19 | chr6 | 131,895,106 | 131,949,345 | 54,240 |
ENST00000368068.8 | hg19 | chr6 | 131,907,872 | 131,949,382 | 41,511 |
ENST00000368060.7 | hg19 | chr6 | 131,907,889 | 131,949,369 | 41,481 |
ENST00000368058.5 | hg19 | chr6 | 131,908,385 | 131,949,206 | 40,822 |
ENST00000368053.8 | hg19 | chr6 | 131,919,391 | 131,949,339 | 29,949 |
ENST00000539158.1 | hg19 | chr6 | 131,923,439 | 131,949,200 | 25,762 |
Genome browser