chr17:29508425:T>C Detail (hg19) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,508,425-29,508,425 |
| hg38 | chr17:31,181,407-31,181,407 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001042492.2:c.587-15T>C | |
| NM_001128147.2:c.587-15T>C | ||
| NM_000267.3:c.587-15T>C |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
middle third of oesophagus |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
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 |
|---|---|---|---|---|---|
|
Likely benign
|
2023-05-15 | criteria provided, single submitter | Neurofibromatosis, type 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001042492.3(NF1):c.587-15T>C AND Neurofibromatosis, type 1 | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2143773718 dbSNP
- Genome
- hg19
- Position
- chr17:29,508,425-29,508,425
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser