chr17:29556142:T>A Detail (hg19) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,556,142-29,556,142 |
| hg38 | chr17:31,229,124-31,229,124 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000267.3:c.2509T>A | NP_000258.1:p.Trp837Arg |
| NM_001042492.2:c.2509T>A | NP_001035957.1:p.Trp837Arg | |
| Ensemble | ENST00000691014.1:c.2539T>A | ENST00000691014.1:p.Trp847Arg |
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
|
2014-01-16 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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_001042492.3(NF1):c.2509T>A (p.Trp837Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NA | 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
- rs587781747 dbSNP
- Genome
- hg19
- Position
- chr17:29,556,142-29,556,142
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
Genome browser