Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Ser471Phe (p.S471F)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000464581.6,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Ser471Phe (p.S471F) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- CHEK2-related disorder
- Source Database
- ClinVar
- Description
- NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) AND CHEK2-related disorder
- ClinVar Allele ID
- 20642
- ClinVar RefSeq Alternation Syntax
- NM_001349956.2:c.1082C>T
- ClinVar RefSeq Alternation Syntax
- NM_001005735.2:c.1412C>T
- ClinVar RefSeq Alternation Syntax
- NM_145862.2:c.1196C>T
- ClinVar RefSeq Alternation Syntax
- NM_007194.4:c.1283C>T
- ClinVar RefSeq Alternation Syntax
- NM_001257387.2:c.620C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004532295
- ClinVar Disease
- CHEK2-related disorder
- Observed Origin Sample
- germline
Drugs