chr17:29554282:TGAGCAT> Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,554,282-29,554,288 |
hg38 | chr17:31,227,264-31,227,270 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001042492.2:c.2298_2304delTGAGCAT | NP_001035957.1:p.Glu767ProfsTer22 |
NM_000267.3:c.2298_2304delTGAGCAT | NP_000258.1:p.Glu767ProfsTer22 | |
Ensemble | ENST00000358273.9:c.2298_2304delTGAGCAT | ENST00000358273.9:p.Glu767ProfsTer22 |
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 |
---|---|---|---|---|---|
![]() |
2021-08-28 | criteria provided, single submitter | Neurofibromatosis, type 1 |
![]() |
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.2298_2304del (p.Glu767fs) 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
- rs786204154 dbSNP
- Genome
- hg19
- Position
- chr17:29,554,282-29,554,288
- Variant Type
- snv
- Reference Allele
- TGAGCAT
- Alternative Allele
- -
Genome browser