Annotation Detail
Information
- Associated Genes
- HSPA1L
- Associated Variants
-
HSPA1L p.Thr493Met (p.T493M)
(
ENST00000375654.5 )
HSPA1L p.Thr493Met (p.T493M) ( ENST00000375654.5 ) - Associated Disease
- HSPA1L-related disorder
- Source Database
- ClinVar
- Description
- NM_005527.4(HSPA1L):c.1478C>T (p.Thr493Met) AND HSPA1L-related disorder
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 3200736
- ClinVar RefSeq Alternation Syntax
- NM_005527.4:c.1478C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003977361
- ClinVar Disease
- HSPA1L-related disorder
Drugs