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: Carcinoma of pancreas linear nevus sebaceous syndrome Familial cancer of breast lung cancer acute myeloid leukemia cardiofaciocutaneous syndrome 2 autoimmune lymphoproliferative syndrome type 4 Malignant tumor of urinary bladder Toriello-Lacassie-Droste syndrome Noonan syndrome 3 Cerebral arteriovenous malformation Gastric cancer
Source Database: ClinVar
Description: NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) AND multiple conditions
ClinVar Disease: Lung cancer
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: 2021-11-22
Clinical Significance Review Status: criteria provided, single submitter
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV003224112
ClinVar Disease: Linear nevus sebaceous syndrome
ClinVar Disease: Toriello-Lacassie-Droste syndrome
ClinVar Disease: Malignant tumor of urinary bladder
ClinVar Disease: Carcinoma of pancreas
ClinVar Disease: Cardiofaciocutaneous syndrome 2
ClinVar Disease: Familial cancer of breast
ClinVar Disease: Noonan syndrome 3
ClinVar Disease: Autoimmune lymphoproliferative syndrome type 4
ClinVar Disease: Acute myeloid leukemia
ClinVar Disease: Gastric cancer
ClinVar Disease: Cerebral arteriovenous malformation
Observed Origin Sample: germline

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