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
- Abetalipoproteinaemia Metabolic syndrome X
- Source Database
- ClinVar
- Description
- NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) AND multiple conditions
- 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
- Clinical Significance Last Update
- 2022-03-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496371
- ClinVar Disease
- Metabolic syndrome X
- ClinVar Disease
- Abetalipoproteinaemia
- Observed Origin Sample
- unknown
Drugs