Annotation Detail
Information
- Associated Genes
- SOS1
- Associated Variants
-
SOS1 p.Ile733Phe (p.I733F)
(
ENST00000395038.6,
ENST00000402219.8,
ENST00000685279.1,
ENST00000691229.1,
ENST00000692089.1 )
SOS1 p.Ile733Phe (p.I733F) ( ENST00000395038.6, ENST00000402219.8, ENST00000685279.1, ENST00000691229.1, ENST00000692089.1 ) - Associated Disease
- Noonan syndrome 3
- Source Database
- ClinVar
- Description
- NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) AND Noonan syndrome 3
- ClinVar Allele ID
- 49171
- ClinVar RefSeq Alternation Syntax
- NM_001382395.1:c.2197A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382394.1:c.2176A>T
- ClinVar RefSeq Alternation Syntax
- NM_005633.4:c.2197A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-04-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000587797
- ClinVar Disease
- Noonan syndrome 3
- Observed Origin Sample
- germline
Drugs