chr17:31334933:A>T Detail (hg38) (NF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:29,661,951-29,661,951 View the variant detail on this assembly version. |
| hg38 | chr17:31,334,933-31,334,933 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000267.3:c.5845A>T | NP_000258.1:p.Arg1949Ter |
| NM_001042492.2:c.5908A>T | NP_001035957.1:p.Arg1970Ter | |
| Ensemble | ENST00000356175.7:c.5845A>T | ENST00000356175.7:p.Arg1949Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1994-04-01 | no assertion criteria provided | Neurofibromatosis, type 1 |
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.5908A>T (p.Arg1970Ter) AND Neurofibromatosis, type 1 | 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
- rs267606595 dbSNP
- Genome
- hg38
- Position
- chr17:31,334,933-31,334,933
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser