Annotation Detail
Information
- Associated Genes
- MTTP
- Associated Variants
-
MTTP p.Ile128Thr (p.I128T)
(
ENST00000265517.10,
ENST00000422897.6,
ENST00000457717.6,
ENST00000511045.6 )
MTTP p.Ile128Thr (p.I128T) ( ENST00000265517.10, ENST00000422897.6, ENST00000457717.6, ENST00000511045.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND not specified
- ClinVar Allele ID
- 29281
- ClinVar RefSeq Alternation Syntax
- NM_000253.4:c.383T>C
- ClinVar RefSeq Alternation Syntax
- NM_001300785.2:c.134T>C
- ClinVar RefSeq Alternation Syntax
- NM_001386140.1:c.383T>C
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2020-01-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000117636
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs