chr16:68856113:C>T Detail (hg19) (CDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:68,856,113-68,856,113 |
| hg38 | chr16:68,822,210-68,822,210 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001317184.1:c.1921C>T | NP_001304113.1:p.Gln641Ter |
| NM_001317186.1:c.1921C>T | NP_001304115.1:p.Gln641Ter | |
| NM_004360.4:c.1921C>T | NP_004351.1:p.Gln641Ter |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-06-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2023-03-06 | criteria provided, multiple submitters, no conflicts | Hereditary diffuse gastric adenocarcinoma |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-08-25 | 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 |
|---|---|---|---|---|---|
| 0.123 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) AND Hereditary diffuse gastric adenocarcinoma | ClinVar | Detail |
| NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter) 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
- rs587782750 dbSNP
- Genome
- hg19
- Position
- chr16:68,856,113-68,856,113
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121330
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.241984669908513E-6
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