chr8:89946138:A>C Detail (hg38) (NBN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:90,958,366-90,958,366 View the variant detail on this assembly version. |
| hg38 | chr8:89,946,138-89,946,138 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002485.4:c.2070+2T>G | |
| NM_001024688.2:c.1824+2T>G | ||
| Ensemble | ENST00000265433.8:c.2070+2T>G |
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 |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-07-26 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2017-11-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-04-14 | criteria provided, single submitter | Microcephaly, normal intelligence and immunodeficiency |
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_002485.5(NBN):c.2070+2T>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_002485.5(NBN):c.2070+2T>G AND not provided | ClinVar | Detail |
| NM_002485.5(NBN):c.2070+2T>G AND Microcephaly, normal intelligence and immunodeficiency | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs786203223 dbSNP
- Genome
- hg38
- Position
- chr8:89,946,138-89,946,138
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser