chr15:43363136:C>T Detail (hg19) (UBR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:43,363,136-43,363,136 |
| hg38 | chr15:43,070,938-43,070,938 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_174916.2:c.529-13G>A | |
| Ensemble | ENST00000290650.9:c.529-13G>A | |
| ENST00000546274.6:c.529-13G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2021-12-15 | criteria provided, multiple submitters, no conflicts | Johanson-Blizzard syndrome |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_174916.3(UBR1):c.529-13G>A AND Johanson-Blizzard syndrome | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1265375100 dbSNP
- Genome
- hg19
- Position
- chr15:43,363,136-43,363,136
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser