Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Gly629Arg (p.G629R)
(
ENST00000358273.9,
ENST00000356175.7,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Gly629Arg (p.G629R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Café-au-lait macules with pulmonary stenosis neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND multiple conditions
- ClinVar Allele ID
- 79199
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.1885G>A
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.1885G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001535533
- ClinVar Disease
- Neurofibromatosis-Noonan syndrome
- ClinVar Disease
- Neurofibromatosis, type 1
- ClinVar Disease
- Café-au-lait macules with pulmonary stenosis
- Observed Origin Sample
- unknown
Drugs