chr10:43610128:C>T Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,610,128-43,610,128 |
| hg38 | chr10:43,114,680-43,114,680 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.2080C>T | NP_065681.1:p.Arg694Trp |
| NM_020975.4:c.2080C>T | NP_066124.1:p.Arg694Trp | |
| Ensemble | ENST00000713926.1:c.1816C>T | ENST00000713926.1:p.Arg606Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-04-18 | criteria provided, multiple submitters, no conflicts | multiple endocrine neoplasia type 2A |
unknown
|
Detail |
|
Uncertain significance
|
2023-12-23 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Uncertain significance
|
2023-06-06 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2019-02-20 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2023-09-18 | criteria provided, single submitter | RET-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.2080C>T (p.Arg694Trp) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.2080C>T (p.Arg694Trp) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.2080C>T (p.Arg694Trp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.2080C>T (p.Arg694Trp) AND not specified | ClinVar | Detail |
| NM_020975.6(RET):c.2080C>T (p.Arg694Trp) AND RET-related disorder | ClinVar | Detail |
| NA | 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
- rs193922700 dbSNP
- Genome
- hg19
- Position
- chr10:43,610,128-43,610,128
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser