Annotation Detail
Information
- Associated Genes
- SOS1
- Associated Variants
-
SOS1 p.Pro340Ser (p.P340S)
(
ENST00000395038.6,
ENST00000402219.8,
ENST00000691229.1,
ENST00000692089.1 )
SOS1 p.Pro340Ser (p.P340S) ( ENST00000395038.6, ENST00000402219.8, ENST00000691229.1, ENST00000692089.1 ) - Associated Disease
- Noonan syndrome 4
- Source Database
- ClinVar
- Description
- NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) AND Noonan syndrome 4
- ClinVar Allele ID
- 49134
- ClinVar RefSeq Alternation Syntax
- NM_001382394.1:c.997C>T
- ClinVar RefSeq Alternation Syntax
- NM_005633.4:c.1018C>T
- ClinVar RefSeq Alternation Syntax
- NM_001382395.1:c.1018C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-04-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001136600
- ClinVar Disease
- Noonan syndrome 4
- Observed Origin Sample
- germline
Drugs