chr11:94471572:A>T Detail (hg38) (MRE11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:94,204,738-94,204,738 View the variant detail on this assembly version. |
| hg38 | chr11:94,471,572-94,471,572 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005591.3:c.845+2T>A | |
| NM_005590.3:c.845+2T>A | ||
| NM_001330347.1:c.845+2T>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2022-12-09 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2015-11-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2023-07-10 | criteria provided, single submitter | Ataxia-telangiectasia-like disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005591.4(MRE11):c.845+2T>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_005591.4(MRE11):c.845+2T>A AND not provided | ClinVar | Detail |
| NM_005591.4(MRE11):c.845+2T>A AND Ataxia-telangiectasia-like disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587781381 dbSNP
- Genome
- hg38
- Position
- chr11:94,471,572-94,471,572
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser