Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS c.*12A>T
(
ENST00000685328.1,
ENST00000256078.10,
ENST00000311936.8,
ENST00000557334.6,
ENST00000688940.1,
ENST00000692768.1,
ENST00000693229.1 )
KRAS c.*12A>T ( ENST00000256078.10, ENST00000311936.8, ENST00000557334.6, ENST00000685328.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 ) - Associated Disease
- Carcinoma of pancreas autoimmune lymphoproliferative syndrome type 4 Familial cancer of breast acute myeloid leukemia Hereditary diffuse gastric adenocarcinoma lung carcinoma linear nevus sebaceous syndrome cardiofaciocutaneous syndrome 2 Malignant tumor of urinary bladder Noonan syndrome 3 Cerebral arteriovenous malformation
- Source Database
- ClinVar
- Description
- NM_004985.5(KRAS):c.458A>T (p.Asp153Val) AND multiple conditions
- ClinVar Allele ID
- 27626
- ClinVar RefSeq Alternation Syntax
- NM_001369786.1:c.*12A>T
- ClinVar RefSeq Alternation Syntax
- NM_033360.4:c.*12A>T
- ClinVar RefSeq Alternation Syntax
- NM_004985.5:c.458A>T
- ClinVar RefSeq Alternation Syntax
- NM_001369787.1:c.458A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763307
- ClinVar Disease
- Linear nevus sebaceous syndrome
- ClinVar Disease
- Malignant tumor of urinary bladder
- ClinVar Disease
- Carcinoma of pancreas
- ClinVar Disease
- Cardiofaciocutaneous syndrome 2
- ClinVar Disease
- Hereditary diffuse gastric adenocarcinoma
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Noonan syndrome 3
- ClinVar Disease
- Lung carcinoma
- ClinVar Disease
- Autoimmune lymphoproliferative syndrome type 4
- ClinVar Disease
- Acute myeloid leukemia
- ClinVar Disease
- Cerebral arteriovenous malformation
- Observed Origin Sample
- unknown
Drugs