PMID: 30019023

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Journal of the Endocrine Society
Ittisoponpisan, Sirawit S, David, Alessia A
2018-08-01

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
3-121976169-G-C CASR c.427G>C p.G143R Missense 3/7 -
19-11218100-T-A LDLR c.850T>A p.C284S Missense 6/18 -
3-122001053-T-G CASR c.1702T>G p.C568G Missense 6/7 -
3-121973142-G-A CASR c.106G>A p.G36R Missense 2/7 -
19-11231152-C-G LDLR c.2094C>G p.C698W Missense 14/18 -
19-11224347-T-C LDLR c.1495T>C p.S499P Missense 10/18 -
3-122002546-G-T CASR c.1745G>T p.C582F Missense 7/7 -
14-81609751-G-A TSHR c.1349G>A p.R450H Missense 10/10 -
19-11221373-G-A LDLR c.986G>A p.C329Y Missense 7/18 -
14-81557414-G-C TSHR c.394G>C p.G132R Missense 5/10 -
3-122002546-G-A CASR c.1745G>A p.C582Y Missense 7/7 -
1-241682940-AA-GG FH c.82_83delTTinsCC p.L28P Missense 1/10 -