Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS c.*8G>T
(
ENST00000685328.1,
ENST00000692768.1,
ENST00000693229.1,
ENST00000311936.8,
ENST00000256078.10,
ENST00000688940.1,
ENST00000557334.6 )
KRAS c.*8G>T ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- Noonan syndrome
- Source Database
- ClinVar
- Description
- NM_004985.5(KRAS):c.454G>T (p.Val152Phe) AND Noonan syndrome
- ClinVar Allele ID
- 54293
- ClinVar RefSeq Alternation Syntax
- NM_001369787.1:c.454G>T
- ClinVar RefSeq Alternation Syntax
- NM_001369786.1:c.*8G>T
- ClinVar RefSeq Alternation Syntax
- NM_033360.4:c.*8G>T
- ClinVar RefSeq Alternation Syntax
- NM_004985.5:c.454G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-05-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000038273
- ClinVar Disease
- Noonan syndrome
- Observed Origin Sample
- germline
Drugs