chr17:29557401:G>T Detail (hg19) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,557,401-29,557,401 |
| hg38 | chr17:31,230,383-31,230,383 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000267.3:c.3113+1G>T | |
| NM_001042492.2:c.3113+1G>T | ||
| Ensemble | ENST00000356175.7:c.3113+1G>T |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-06-29 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-10-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001042492.3(NF1):c.3113+1G>T AND Neurofibromatosis, type 1 | ClinVar | Detail |
| NM_001042492.3(NF1):c.3113+1G>T AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267606599 dbSNP
- Genome
- hg19
- Position
- chr17:29,557,401-29,557,401
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser