Annotation Detail
Information
- Associated Genes
- PCLO
- Associated Variants
-
PCLO p.Ser4814Ala (p.S4814A)
(
ENST00000333891.14,
ENST00000423517.6,
ENST00000618073.1 )
PCLO p.Ser4814Ala (p.S4814A) ( ENST00000333891.14, ENST00000423517.6, ENST00000618073.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) AND not specified
- ClinVar Allele ID
- 1274411
- ClinVar RefSeq Alternation Syntax
- NM_033026.6:c.14440T>G
- ClinVar RefSeq Alternation Syntax
- NM_014510.3:c.14440T>G
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001699752
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs