chr16:68835596:C>T Detail (hg19) (CDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:68,835,596-68,835,596 |
| hg38 | chr16:68,801,693-68,801,693 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001317184.1:c.187C>T | NP_001304113.1:p.Arg63Ter |
| NM_001317186.1:c.187C>T | NP_001304115.1:p.Arg63Ter | |
| NM_004360.4:c.187C>T | NP_004351.1:p.Arg63Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | caecum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-06-21 | criteria provided, multiple submitters, no conflicts | Hereditary diffuse gastric adenocarcinoma |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-06-05 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-29 | reviewed by expert panel | CDH1-related diffuse gastric and lobular breast cancer syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.389 | hereditary diffuse gastric cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004360.5(CDH1):c.187C>T (p.Arg63Ter) AND Hereditary diffuse gastric adenocarcinoma | ClinVar | Detail |
| NM_004360.5(CDH1):c.187C>T (p.Arg63Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_004360.5(CDH1):c.187C>T (p.Arg63Ter) AND CDH1-related diffuse gastric and lobular breast cancer s... | 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
- rs587783047 dbSNP
- Genome
- hg19
- Position
- chr16:68,835,596-68,835,596
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser