chr5:112157649:T> Detail (hg19) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,157,649-112,157,649 |
hg38 | chr5:112,821,952-112,821,952 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127511.2:c.1315delT | NP_001120983.2:p.Ser439HisfsTer10 |
NM_000038.5:c.1369delT | NP_000029.2:p.Ser457HisfsTer10 | |
NM_001127510.2:c.1369delT | NP_001120982.1:p.Ser457HisfsTer10 |
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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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 |
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.120 | Polyposis, Adenomatous Intestinal | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000038.6(APC):c.1369del (p.Ser457fs) AND Familial adenomatous polyposis 1 | ClinVar | Detail |
NM_000038.6(APC):c.1369del (p.Ser457fs) 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 |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs387906229 dbSNP
- Genome
- hg19
- Position
- chr5:112,157,649-112,157,649
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
Genome browser