Annotation Detail
Information
- Associated Genes
- MTTP
- Associated Variants
-
MTTP p.Ile128Thr (p.I128T)
(
ENST00000265517.10,
ENST00000422897.6,
ENST00000457717.6,
ENST00000511045.6 )
MTTP p.Val168Ile (p.V168I) ( ENST00000265517.10, ENST00000457717.6, ENST00000511045.6 )
MTTP p.Ile128Thr (p.I128T) ( ENST00000265517.10, ENST00000422897.6, ENST00000457717.6, ENST00000511045.6 )
MTTP p.Val168Ile (p.V168I) ( ENST00000265517.10, ENST00000457717.6, ENST00000511045.6 ) - Associated Disease
- Hypobetalipoproteinemias
- Source Database
- DisGeNET
- Description
- MTP gene sequence revealed that he was a carrier of the I128T polymorphism and an unreported amino acid substitution (V168I) unlikely to be the cause of hypobetalipoproteinemia.
- Pubmed
- 14732481
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00408155960286869
- Year of publication
- 2004
Drugs