chr10:43623563:T>C Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,623,563-43,623,563 |
| hg38 | chr10:43,128,115-43,128,115 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020975.4:c.3191T>C | NP_066124.1:p.Met1064Thr |
| Ensemble | ENST00000615310.5:c.*1361T>C | |
| ENST00000355710.8:c.3191T>C | ENST00000355710.8:p.Met1064Thr |
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 |
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
|
2014-06-01 | no assertion criteria provided | Aganglionic megacolon |
germline
|
Detail |
|
Uncertain significance
|
2024-01-13 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
germline
|
Detail |
|
Uncertain significance
|
2023-04-04 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2022-04-13 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-13 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-13 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-13 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-04-13 | criteria provided, single submitter | multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2023-10-24 | criteria provided, single submitter | Hirschsprung disease, susceptibility to, 1 |
unknown
|
Detail |
|
Uncertain significance
|
2022-03-18 | criteria provided, single submitter | not provided |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Aganglionic megacolon | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Multiple endocrine neoplasia, type 2 | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND not provided | ClinVar | Detail |
| In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transform... | 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
- rs149513065 dbSNP
- Genome
- hg19
- Position
- chr10:43,623,563-43,623,563
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121352
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.4721471421979035E-5
Genome browser