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_001048171.1:c.697C>T | NP_001041636.1:p.Arg233Ter |
NM_001293190.1:c.697C>T | NP_001280119.1:p.Arg233Ter | |
NM_001293192.1:c.697C>T | NP_001280121.1:p.Arg233Ter |
Summary
MGeND
Clinical significance |
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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 |
---|---|---|---|---|---|---|---|---|---|
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2021/03/19 | Colorectal |
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MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-07-25 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2014-07-24 | no assertion criteria provided | Carcinoma of colon |
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Detail |
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2022-06-25 | criteria provided, single submitter | not provided |
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Detail |
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2023-11-15 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 2 |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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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
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