Annotation Detail
Information
- Associated Genes
- SELP
- Associated Variants
-
SELP p.Thr756Pro (p.T756P)
(
ENST00000367786.6,
ENST00000263686.11,
ENST00000367788.6,
ENST00000458599.6 )
SELP p.Thr756Pro (p.T756P) ( ENST00000263686.11, ENST00000367786.6, ENST00000367788.6, ENST00000458599.6 ) - Associated Disease
- SELP-related disorder
- Source Database
- ClinVar
- Description
- NM_003005.4(SELP):c.2266A>C (p.Thr756Pro) AND SELP-related disorder
- ClinVar Allele ID
- 28566
- ClinVar RefSeq Alternation Syntax
- NM_003005.4:c.2266A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-11-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003964801
- ClinVar Disease
- SELP-related disorder
- Observed Origin Sample
- germline
Drugs