chr5:112170646:A>G Detail (hg19) (APC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:112,170,646-112,170,646 |
| hg38 | chr5:112,834,949-112,834,949 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000038.5:c.1744-2A>G | |
| NM_001127511.2:c.1690-2A>G | ||
| NM_001127510.2:c.1744-2A>G |
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
|
2023-05-03 | criteria provided, multiple submitters, no conflicts | familial adenomatous polyposis 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Carcinoma of colon |
unknown
|
Detail | |
|
Pathogenic
|
2019-12-03 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-08-23 | criteria provided, single submitter | Familial multiple polyposis syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-05-26 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-05-09 | criteria provided, single submitter | familial adenomatous polyposis 1 |
germline
|
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.1744-2A>G AND Familial adenomatous polyposis 1 | ClinVar | Detail |
| NM_000038.6(APC):c.1744-2A>G AND Carcinoma of colon | ClinVar | Detail |
| NM_000038.6(APC):c.1744-2A>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000038.6(APC):c.1744-2A>G AND Familial multiple polyposis syndrome | ClinVar | Detail |
| NM_000038.6(APC):c.1744-2A>G AND not provided | ClinVar | Detail |
| NM_000038.6(APC):c.1744-2A>G AND Familial adenomatous polyposis 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587783035 dbSNP
- Genome
- hg19
- Position
- chr5:112,170,646-112,170,646
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser