Annotation Detail
Information
- Associated Genes
- PLCE1
- Associated Variants
-
PLCE1 p.His1927Arg (p.H1927R)
(
ENST00000371375.2,
ENST00000371380.8,
ENST00000371385.8,
ENST00000675218.1,
ENST00000688810.1,
ENST00000692396.1 )
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) AND not provided
- ClinVar Allele ID
- 253945
- ClinVar RefSeq Alternation Syntax
- NM_016341.4:c.5780A>G
- ClinVar RefSeq Alternation Syntax
- NM_001288989.2:c.5732A>G
- ClinVar RefSeq Alternation Syntax
- NM_001165979.2:c.4856A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001683082
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs