chr5:112151196:C>G Detail (hg19) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,151,196-112,151,196 |
hg38 | chr5:112,815,499-112,815,499 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127511.2:c.785C>G | NP_001120983.2:p.Ser262Ter |
NM_001127510.2:c.839C>G | NP_001120982.1:p.Ser280Ter | |
NM_000038.5:c.839C>G | NP_000029.2:p.Ser280Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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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Colorectal |
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MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
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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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1991-08-09 | no assertion criteria provided | Gardner syndrome |
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Detail |
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2013-03-08 | criteria provided, single submitter | Familial multiple polyposis syndrome |
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Detail |
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2020-04-08 | criteria provided, single submitter | familial adenomatous polyposis 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.245 | Gardner syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000038.6(APC):c.839C>G (p.Ser280Ter) AND Gardner syndrome | ClinVar | Detail |
NM_000038.6(APC):c.839C>G (p.Ser280Ter) AND Familial multiple polyposis syndrome | ClinVar | Detail |
NM_000038.6(APC):c.839C>G (p.Ser280Ter) AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs137854569 dbSNP
- Genome
- hg19
- Position
- chr5:112,151,196-112,151,196
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser