Annotation Detail
Information
- Associated Genes
- MTTP
- Associated Variants
-
MTTP p.Val168Ile (p.V168I)
(
ENST00000265517.10,
ENST00000457717.6,
ENST00000511045.6 )
MTTP p.Val168Ile (p.V168I) ( ENST00000265517.10, ENST00000457717.6, ENST00000511045.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) AND not provided
- ClinVar Allele ID
- 294778
- ClinVar RefSeq Alternation Syntax
- NM_000253.4:c.502G>A
- ClinVar RefSeq Alternation Syntax
- NM_001386140.1:c.502G>A
- ClinVar RefSeq Alternation Syntax
- NM_001300785.2:c.253G>A
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000954625
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs