CBX1 chromobox 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
8 |
![]() |
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 | CBX |
SYNONYM | HP1-BETA |
SYNONYM | HP1Hs-beta |
SYNONYM | HP1Hsbeta |
SYNONYM | Hp1beta |
SYNONYM | M31 |
SYNONYM | MOD1 |
SYNONYM | p25beta |
MIM | 604511 OMIM |
HGNC | HGNC:1551 HGNC |
Ensembl | ENSG00000108468 Ensembl |
AllianceGenome | HGNC:1551 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000495350.5 | hg38 | chr17 | 48,074,926 | 48,101,287 | 26,362 |
ENST00000393408.7 | hg38 | chr17 | 48,070,052 | 48,101,198 | 31,147 |
ENST00000225603.9 | hg38 | chr17 | 48,070,059 | 48,101,478 | 31,420 |
ENST00000393408.7 | hg19 | chr17 | 46,147,414 | 46,178,560 | 31,147 |
ENST00000225603.9 | hg19 | chr17 | 46,147,421 | 46,178,840 | 31,420 |
ENST00000495350.5 | hg19 | chr17 | 46,152,288 | 46,178,649 | 26,362 |
Genome browser