NG_005905.2:g.(?_92501)_(135581_1441370)del AND Breast-ovarian cancer, familial, susceptibility to, 1 Detail (hg38) (BRCA1, RND2, LOC110485084, LOC111589215, LOC111589216, LOC125177482, LOC126862571, LOC130060934)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:41,234,420-41,277,500 View the variant detail on this assembly version. |
| hg38 | chr17:43,082,403-43,125,483 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | |||
| NCBI | |||
| Gene Cards | |||
| OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2015-10-02 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
|
Detail |
|
Pathogenic
|
2015-10-02 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NG_005905.2:g.(?_92501)_(135581_1441370)del AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
| NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del AND Breast-ovarian ... | ClinVar | 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
- -
- Genome
- hg38
- Position
- chr17:43,082,403-43,125,483
- Variant Type
- cnv
Genome browser