Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1276Gln (p.R1276Q)
(
ENST00000356175.7,
ENST00000358273.9,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Arg1276Gln (p.R1276Q) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- neurofibromatosis-Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) AND Neurofibromatosis-Noonan syndrome
- ClinVar Allele ID
- 79232
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.3827G>A
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.3827G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-07-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002470752
- ClinVar Disease
- Neurofibromatosis-Noonan syndrome
- Observed Origin Sample
- germline
Drugs