Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Gln514ArgfsTer43 (p.Q514Rfs*43)
(
ENST00000487476.5,
ENST00000431387.8,
ENST00000691014.1,
ENST00000356175.7,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Gln514ArgfsTer43 (p.Q514Rfs*43) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis-Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) AND Neurofibromatosis-Noonan syndrome
- ClinVar Allele ID
- 15385
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1541_1542del
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.1541_1542del
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1541_1542del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002288457
- ClinVar Disease
- Neurofibromatosis-Noonan syndrome
- Observed Origin Sample
- germline
Drugs