chr5:112177233:A> Detail (hg19) (APC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:112,177,233-112,177,233 |
hg38 | chr5:112,841,536-112,841,536 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000038.5:c.5942delA | NP_000029.2:p.Asn1981IlefsTer63 |
NM_001127511.2:c.5888delA | NP_001120983.2:p.Asn1963IlefsTer63 | |
NM_001127510.2:c.5942delA | NP_001120982.1:p.Asn1981IlefsTer63 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
1996-12-01 | no assertion criteria provided | familial adenomatous polyposis 1 |
![]() |
Detail |
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.5942del (p.Asn1981fs) 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
- rs397509433 dbSNP
- Genome
- hg19
- Position
- chr5:112,177,233-112,177,233
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- -
Genome browser