Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Lys147Glu (p.K147E)
(
ENST00000557334.6,
ENST00000311936.8,
ENST00000693229.1,
ENST00000256078.10,
ENST00000688940.1,
ENST00000692768.1,
ENST00000685328.1 )
KRAS p.Lys147Glu (p.K147E) ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- cardiofaciocutaneous syndrome 2
- Source Database
- ClinVar
- Description
- NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) AND Cardiofaciocutaneous syndrome 2
- ClinVar Allele ID
- 40606
- ClinVar RefSeq Alternation Syntax
- NM_001369787.1:c.439A>G
- ClinVar RefSeq Alternation Syntax
- NM_004985.5:c.439A>G
- ClinVar RefSeq Alternation Syntax
- NM_033360.4:c.439A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369786.1:c.439A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-01-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000024618
- ClinVar Disease
- Cardiofaciocutaneous syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 23059812
- Pubmed
- 21797849
Drugs