Annotation Detail
Information
- Associated Genes
- NF1 MIR4733HG LOC111811965
- Associated Variants
-
NF1 c.-229C>G
(
ENST00000696138.1,
ENST00000358273.9,
ENST00000356175.7,
ENST00000691014.1,
ENST00000431387.8,
ENST00000487476.5 )
NF1 c.-229C>G ( 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.-229C>G AND Neurofibromatosis-Noonan syndrome
- ClinVar Allele ID
- 345440
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.-229C>G
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.-229C>G
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.-229C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000390462
- ClinVar Disease
- Neurofibromatosis-Noonan syndrome
- Observed Origin Sample
- germline
Drugs