chr10:43609989:C>T Detail (hg19) (RET)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:43,609,989-43,609,989 |
| hg38 | chr10:43,114,541-43,114,541 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_020630.4:c.1941C>T | NP_065681.1:p.Ile647= |
| NM_020975.4:c.1941C>T | NP_066124.1:p.Ile647= | |
| Ensemble | ENST00000340058.6:c.1941C>T | ENST00000340058.6:p.Ile647= |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| 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
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
1999-04-01 | no assertion criteria provided | Hirschsprung disease, susceptibility to, 1 |
germline
|
Detail |
Likely benign
|
2021-12-13 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-07-01 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
Benign
|
2019-05-28 | criteria provided, single submitter | multiple endocrine neoplasia type 2A |
unknown
|
Detail |
|
Likely benign
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | Multiple endocrine neoplasia, type 2 |
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.1941C>T (p.Ile647=) AND Hirschsprung disease, susceptibility to, 1 | ClinVar | Detail |
| NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_020975.6(RET):c.1941C>T (p.Ile647=) AND not provided | ClinVar | Detail |
| NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
| NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Multiple endocrine neoplasia, type 2 | 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
- rs75225191 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,989-43,609,989
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8644
- 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)
- 121202
- Allele Counts in All Race (ExAC)
- 11
- Heterozygous Counts in All Race (ExAC)
- 11
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.075757825778452E-5
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