chr10:43609926:A>G Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,609,926-43,609,926 |
| hg38 | chr10:43,114,478-43,114,478 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020975.4:c.1880-2A>G | |
| NM_020630.4:c.1880-2A>G | ||
| Ensemble | ENST00000355710.8:c.1880-2A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.156 | Hirschsprung disease 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.1880-2A>G AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs193922699 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,926-43,609,926
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser