chr16:68845762:G>T Detail (hg19) (CDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:68,845,762-68,845,762 |
| hg38 | chr16:68,811,859-68,811,859 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001317184.1:c.1008G>T | NP_001304113.1:p.Glu336Asp |
| NM_001317186.1:c.1008G>T | NP_001304115.1:p.Glu336Asp | |
| NM_004360.4:c.1008G>T | NP_004351.1:p.Glu336Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1998-03-26 | no assertion criteria provided | Hereditary diffuse gastric adenocarcinoma |
unknown
|
Detail |
|
Pathogenic
|
2017-11-09 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2023-08-28 | 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.1008G>T (p.Glu336Asp) AND Hereditary diffuse gastric adenocarcinoma | ClinVar | Detail |
| NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp) AND CDH1-related diffuse gastric and lobular breast cancer... | 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
- rs267606712 dbSNP
- Genome
- hg19
- Position
- chr16:68,845,762-68,845,762
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser