chr1:45798112:G>A Detail (hg19) (MUTYH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:45,798,112-45,798,112 |
| hg38 | chr1:45,332,440-45,332,440 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001048174.1:c.655C>T | NP_001041639.1:p.Arg219Ter |
| NM_001293191.1:c.655C>T | NP_001280120.1:p.Arg219Ter | |
| NM_001048171.1:c.697C>T | NP_001041636.1:p.Arg233Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2021/03/19 | Colorectal |
germline
|
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-07-25 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2014-07-24 | no assertion criteria provided | Carcinoma of colon |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-06-25 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-11-15 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.122 | colon carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) AND Carcinoma of colon | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) AND not provided | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) AND Familial adenomatous polyposis 2 | ClinVar | Detail |
| NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) AND Gastric cancer | ClinVar | Detail |
| NA | DisGeNET | 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
- rs587782885 dbSNP
- Genome
- hg19
- Position
- chr1:45,798,112-45,798,112
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser