CYP2D6*44 is defined by a splicing defect yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.

Splicing Table of Consumer Price Indices. Sheet1. Month. Jan. Feb. Mar. Apr. May. June. July. Aug. Sept. Oct. Nov. Dec. Yearly. Index. Year. 2.Indices of 1970 and before were sourcing from Taiwan …

If a novel variant is predicted to alter RNA splicing, then it may be classified as a VUS. Other criteria, such as origin of the variant, will also be weighed for synonymous variants.

030104b Conductors 030104c Splicing and Terminating (Low Voltage) 030104d Resistors 030104e

The mechanism was predominantly aberrant splicing caused by c.516G>T (but not c.785A>G) leading to reduced content of functional mRNA, protein, and activity (14551287, 18171905, 24260284).

030104b Conductors 030104c Low Voltage Splicing and Terminating 030104d Resistors 030104e

CYP2C19*2 is defined by splicing defects resulting in a truncated protein lacking a heme binding region, making it a nonfunctional protein.

Due to changes resulting from the new Skilled Trades and Apprenticeship Education Act, the content within Alberta’s Industry Network and Apprenticeship Training Program modules is no longer valid …

Date Note added protein header at AA3 - splicing defect added PharmVar ID for c.1129-5923C>G Added c.1129-5923C>G as a single allele in addition to the HapB3 allele; further information in Notes …

Effect on protein (NP_006437.3) Position at NC_000012.12 (Homo sapiens chromosome 12, GRCh38.p2) Position at NG_011745.1 (SLCO1B1 RefSeqGene) rsID. 1A>T. p.M1L. …