Full database search - Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

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The variants below are all in the CHEK2 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than CHEK2, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the CHEK2 full legend here.

1 public entry
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Path.

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference

Disease

Reference

Remarks

# Reported

Mut. origin

Gender

Occurrence

De novo origin

Geographic origin

Ethnic origin

Population


+/?	15	c.1582G>A	-	-	p.Glu528Lys	-	NA	-	-	CHEK2_00074	Substitution	Exon	DNA	PCR	unknown	-	-	-	dbSNP, Peikuan Cong	-	1	-	-	-	-	-	-	-

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Legend: [ CHEK2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Patients: Patients Controls: Controls CHEK2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Type: Type of variant at DNA level. Location: Variant location at DNA level. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Tissue: Tissue type the variant was detected in. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. Remarks: Remarks # Reported: Number of times this case has been reported Mut. origin: Origin of mutation Gender: Patient gender Occurrence: Occurrence De novo origin: If de novo, origin of mutation Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Population: Patient population

Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

checkpoint kinase 2 (CHEK2)