HMGB1 high mobility group box 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 1 | 0 |
| Benign | 0 | 8 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
26 |
![]() |
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
|
| 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 | HMG-1 |
| SYNONYM | HMG1 |
| SYNONYM | HMG3 |
| SYNONYM | SBP-1 |
| MIM | 163905 OMIM |
| HGNC | HGNC:4983 HGNC |
| Ensembl | ENSG00000189403 Ensembl |
| AllianceGenome | HGNC:4983 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000341423.10 | hg38 | chr13 | 30,456,704 | 30,465,936 | 9,233 |
| ENST00000405805.5 | hg38 | chr13 | 30,458,747 | 30,617,597 | 158,851 |
| ENST00000326004.4 | hg38 | chr13 | 30,461,496 | 30,465,938 | 4,443 |
| ENST00000339872.8 | hg38 | chr13 | 30,459,850 | 30,464,310 | 4,461 |
| ENST00000399494.5 | hg38 | chr13 | 30,460,907 | 30,465,242 | 4,336 |
| ENST00000399489.5 | hg38 | chr13 | 30,460,895 | 30,464,247 | 3,353 |
| ENST00000341423.10 | hg19 | chr13 | 31,030,841 | 31,040,073 | 9,233 |
| ENST00000405805.5 | hg19 | chr13 | 31,032,884 | 31,191,734 | 158,851 |
| ENST00000339872.8 | hg19 | chr13 | 31,033,987 | 31,038,447 | 4,461 |
| ENST00000399489.5 | hg19 | chr13 | 31,035,032 | 31,038,384 | 3,353 |
| ENST00000399494.5 | hg19 | chr13 | 31,035,044 | 31,039,379 | 4,336 |
| ENST00000326004.4 | hg19 | chr13 | 31,035,633 | 31,040,075 | 4,443 |
Genome browser




