chr10:43126651:C>T Detail (hg38) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,622,099-43,622,099 View the variant detail on this assembly version. |
| hg38 | chr10:43,126,651-43,126,651 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.3116C>T | NP_065681.1:p.Pro1039Leu |
| NM_020975.4:c.3116C>T | NP_066124.1:p.Pro1039Leu | |
| Ensemble | ENST00000340058.6:c.3116C>T | ENST00000340058.6:p.Pro1039Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
1998-03-01 | no assertion criteria provided | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
Uncertain significance
|
2014-06-01 | no assertion criteria provided | Aganglionic megacolon |
germline
|
Detail |
|
Uncertain significance
|
2016-02-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2B |
unknown
|
Detail |
|
Uncertain significance
|
2016-02-02 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
unknown
|
Detail |
Likely benign
|
2022-03-04 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2023-12-26 | criteria provided, single submitter | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Uncertain significance
|
2022-04-30 | criteria provided, single submitter | pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-30 | criteria provided, single submitter | pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-30 | criteria provided, single submitter | pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-30 | criteria provided, single submitter | pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-30 | criteria provided, single submitter | pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2023-10-12 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.614 | multiple endocrine neoplasia type 2A | In contrast, three mutations mapping into the intracytoplasmic domain neither mo... | BeFree | 9502784 | Detail |
| 0.529 | Hirschsprung Disease | NA | CLINVAR | Detail | |
| 0.241 | Congenital central hypoventilation | Mutations of the RET-GDNF signaling pathway in Ondine's curse. | UNIPROT | 9497256 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND Aganglionic megacolon | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND Multiple endocrine neoplasia type 2B | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) AND not specified | ClinVar | Detail |
| In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transform... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations of the RET-GDNF signaling pathway in Ondine's curse. | 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
- rs79853121 dbSNP
- Genome
- hg38
- Position
- chr10:43,126,651-43,126,651
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121330
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6483969339817027E-5
Genome browser