Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Trp1559Ter (p.W1559*)
(
ENST00000358273.9,
ENST00000696138.1,
ENST00000691014.1,
ENST00000356175.7 )
NF1 p.Trp1559Ter (p.W1559*) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- juvenile myelomonocytic leukemia
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) AND Juvenile myelomonocytic leukemia
- ClinVar Allele ID
- 15389
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.4614G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.4677G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-06-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000378
- ClinVar Disease
- Juvenile myelomonocytic leukemia
- Observed Origin Sample
- germline
- Pubmed
- 9180088
Drugs