chr17:29553629:G> Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,553,629-29,553,629 |
hg38 | chr17:31,226,611-31,226,611 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.2178delG | NP_000258.1:p.Ser727GlnfsTer21 |
NM_001042492.2:c.2178delG | NP_001035957.1:p.Ser727GlnfsTer21 | |
Ensemble | ENST00000356175.7:c.2178delG | ENST00000356175.7:p.Ser727GlnfsTer21 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.2178del (p.Ser727fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.2178del (p.Ser727fs) 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
- rs786202954 dbSNP
- Genome
- hg19
- Position
- chr17:29,553,629-29,553,629
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser