chr5:112111439:G>A Detail (hg19) (APC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:112,111,439-112,111,439 |
| hg38 | chr5:112,775,742-112,775,742 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000038.5:c.531+5G>A | |
| NM_001127511.2:c.561+5G>A | ||
| NM_001127510.2:c.531+5G>A |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2021-10-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-12-29 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-04-27 | criteria provided, single submitter | familial adenomatous polyposis 1 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000038.6(APC):c.531+5G>A AND not provided | ClinVar | Detail |
| NM_000038.6(APC):c.531+5G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000038.6(APC):c.531+5G>A AND Familial adenomatous polyposis 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587779798 dbSNP
- Genome
- hg19
- Position
- chr5:112,111,439-112,111,439
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser