chr5:112116577:C>A Detail (hg19) (APC)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:112,116,577-112,116,577 |
| hg38 | chr5:112,780,880-112,780,880 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000038.5:c.622C>A | NP_000029.2:p.Gln208Lys |
| NM_001127511.2:c.652C>A | NP_001120983.2:p.Gln218Lys | |
| NM_001127510.2:c.622C>A | NP_001120982.1:p.Gln208Lys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2014-07-24 | no assertion criteria provided | familial adenomatous polyposis 1 |
germline
|
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.622C>A (p.Gln208Lys) 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
- rs137854583 dbSNP
- Genome
- hg19
- Position
- chr5:112,116,577-112,116,577
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
Genome browser