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
RASopathy
Source Database
ClinVar
Description
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND RASopathy
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
2021-12-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000157946
ClinVar Disease
RASopathy
Observed Origin Sample
germline
Drugs