chr10:43613829:T>C Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,613,829-43,613,829 |
| hg38 | chr10:43,118,381-43,118,381 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020975.4:c.2293T>C | NP_066124.1:p.Ser765Pro |
| NM_020630.4:c.2293T>C | NP_065681.1:p.Ser765Pro | |
| Ensemble | ENST00000355710.8:c.2293T>C | ENST00000355710.8:p.Ser765Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
1994-01-27 | no assertion criteria provided | 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 | |
| 0.200 | Hirschsprung disease, susceptibility to, 1 | Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. | UNIPROT | 7704557 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.2293T>C (p.Ser765Pro) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs75075748 dbSNP
- Genome
- hg19
- Position
- chr10:43,613,829-43,613,829
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser