chr17:29562747:G>C Detail (hg19) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,562,747-29,562,747 |
| hg38 | chr17:31,235,729-31,235,729 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000267.3:c.3827G>C | NP_000258.1:p.Arg1276Pro |
| NM_001042492.2:c.3827G>C | NP_001035957.1:p.Arg1276Pro | |
| Ensemble | ENST00000356175.7:c.3827G>C | ENST00000356175.7:p.Arg1276Pro |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Glioma |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-06-13 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
germline
|
Detail |
|
Pathogenic
|
2023-08-15 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-07-11 | 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 | |
| 0.670 | neurofibromatosis 1 | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screen... | UNIPROT | 10712197 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) AND Neurofibromatosis, type 1 | ClinVar | Detail |
| NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) AND not provided | ClinVar | Detail |
| NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in ... | DisGeNET | 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
- -
- dbSNP
- rs137854556 dbSNP
- Genome
- hg19
- Position
- chr17:29,562,747-29,562,747
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser