Annotation Detail
Information
- Associated Genes
- MTTP
- Associated Variants
-
MTTP c.-101-478G>T
(
ENST00000457717.6,
ENST00000511045.6 )
MTTP c.-101-478G>T ( ENST00000457717.6, ENST00000511045.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000253.4(MTTP):c.-101-478G>T AND not provided
- ClinVar Allele ID
- 1154870
- ClinVar RefSeq Alternation Syntax
- NM_000253.4:c.-101-478G>T
- ClinVar RefSeq Alternation Syntax
- NM_001300785.2:c.-188-7574G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001519435
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs