72518-4LOINC 2.82
CHEK2 gene c.470C>T and 1100delC [Identifier] in Blood or Tissue by Molecular genetics method Nominal
CHEK2 c.470C>T+1100delC Bld/T
Definition
- Targeted mutation analysis for the variant 470C>T (I157T, [NCBI dbSNP ID: rs17879961]) in exon 3 and the 1-base pair deletion (1100delC) in exon 10 of the CHEK2 gene is performed for the diagnosis of various cancers, including breast, ovarian, colorectal and prostate cancer.
Component
- CHEK2 gene.c.470C>T & 1100delC
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Prid
Scale
- Nom
Method
- Molgen
Related names
- Blood; CDS1; checkpoint kinase 2; CHEK2 c.470C>T+1100delC; CHK2; Genetics; hCds1; Heredity; Heritable; HuCds1; I157T; Identity or presence; Inherited; LFS2; Li-Fraumeni syndrome; Li-Fraumeni syndrome 2; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Nominal; PCR; Point in time; PP1425; RAD53; Random; rs17879961; T prime; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- CDS1
- checkpoint kinase 2
- CHEK2 c.470C>
- CHEK2 gene.c.470C>T & 1100delC
- CHK2
- Genetics
- hCds1
- Heredity
- Heritable
- HuCds1
- I157T
- Identity or presence
- Inherited
- LFS2
- Li-Fraumeni syndrome
- Li-Fraumeni syndrome 2
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Nominal
- PCR
- Point in time
- PP1425
- RAD53
- Random
- rs17879961
- T prime
- T+1100delC
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue