chr13:32914960:TC> Detail (hg19) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,914,960-32,914,961 |
| hg38 | chr13:32,340,823-32,340,824 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.6468_6469delTC | NP_000050.2:p.Gln2157IlefsTer18 |
| Ensemble | ENST00000544455.6:c.6468_6469delTC | ENST00000544455.6:p.Gln2157IlefsTer18 |
| ENST00000713680.1:c.6468_6469delTC | ENST00000713680.1:p.Gln2157IlefsTer18 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 5 |
| 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
|
2018/01/13 | breast, unspecified |
germline
|
MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
|
Pathogenic
|
2021/03/19 | breast |
germline
|
MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
2021/03/19 | prostate |
germline
|
MGS000049
(TMGS000113) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Breast-ovarian cancer, familial, susceptibility to, 2 | NA | CLINVAR | Detail | |
| 0.174 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
| 0.391 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail | |
| 0.128 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs80359596 dbSNP
- Genome
- hg19
- Position
- chr13:32,914,960-32,914,961
- Variant Type
- snv
- Reference Allele
- TC
- Alternative Allele
- -
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