chr17:29548860:A>G Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,548,860-29,548,860 |
hg38 | chr17:31,221,842-31,221,842 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001042492.2:c.1642-8A>G | |
NM_000267.3:c.1642-8A>G | ||
NM_001128147.2:c.1642-8A>G |
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 |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
0.444 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.1642-8A>G AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_001042492.3(NF1):c.1642-8A>G AND Neurofibromatosis, type 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs267606602 dbSNP
- Genome
- hg19
- Position
- chr17:29,548,860-29,548,860
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser