Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gln22Arg (p.Q22R)
(
ENST00000311936.8,
ENST00000686969.1,
ENST00000693229.1,
ENST00000692768.1,
ENST00000557334.6,
ENST00000556131.2,
ENST00000685328.1,
ENST00000688940.1,
ENST00000256078.10 )
KRAS p.Gln22Arg (p.Q22R) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- cardiofaciocutaneous syndrome 2 Noonan syndrome 3
- Source Database
- ClinVar
- Description
- NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions
- ClinVar Allele ID
- 48922
- ClinVar RefSeq Alternation Syntax
- NM_004985.5:c.65A>G
- ClinVar RefSeq Alternation Syntax
- NM_033360.4:c.65A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369786.1:c.65A>G
- ClinVar RefSeq Alternation Syntax
- NM_001369787.1:c.65A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-08-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000576784
- ClinVar Disease
- Cardiofaciocutaneous syndrome 2
- ClinVar Disease
- Noonan syndrome 3
- Observed Origin Sample
- germline
Drugs