Annotation Detail
Information
- Associated Genes
- PLCE1
- Associated Variants
-
PLCE1 p.Thr1777Ile (p.T1777I)
(
ENST00000688810.1,
ENST00000692396.1,
ENST00000675218.1,
ENST00000371380.8,
ENST00000371385.8,
ENST00000371375.2 )
PLCE1 p.Thr1777Ile (p.T1777I) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 ) - Source Database
- ClinVar
- Description
- NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) AND Focal segmental glomerulosclerosis
- ClinVar Allele ID
- 253941
- ClinVar RefSeq Alternation Syntax
- NM_001165979.2:c.4406C>T
- ClinVar RefSeq Alternation Syntax
- NM_001288989.2:c.5282C>T
- ClinVar RefSeq Alternation Syntax
- NM_016341.4:c.5330C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-09-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002294190
- Observed Origin Sample
- germline
Drugs