Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS c.*2626T>G ( ENST00000256078.10, ENST00000688940.1, ENST00000553788.6, ENST00000692768.1, ENST00000685328.1, ENST00000693229.1, ENST00000311936.8 )
KRAS c.*2626T>G ( ENST00000256078.10, ENST00000311936.8, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1, ENST00000553788.6 )
Associated Disease
Noonan syndrome
Source Database
ClinVar
Description
NM_033360.4(KRAS):c.*2626T>G AND Noonan syndrome
ClinVar Allele ID
324191
ClinVar RefSeq Alternation Syntax
NM_001369787.1:c.*2505T>G
ClinVar RefSeq Alternation Syntax
NM_004985.5:c.*2505T>G
ClinVar RefSeq Alternation Syntax
NM_033360.4:c.*2626T>G
ClinVar RefSeq Alternation Syntax
NM_001369786.1:c.*2626T>G
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2016-06-14
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000384527
ClinVar Disease
Noonan syndrome
Observed Origin Sample
germline
Drugs