LDLR c.224G>C ;(p.C75S)

Variant ID: 19-11213373-G-C

NM_000527.4(LDLR):c.224G>C;(p.C75S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Journal Of The American Heart Association
Cuchel, Marina M; Lee, Paul C PC; Hudgins, Lisa C LC; Duell, P Barton PB; Ahmad, Zahid Z; Baum, Seth J SJ; Linton, MacRae F MF; de Ferranti, Sarah D SD; Ballantyne, Christie M CM; Larry, John A JA; Hemphill, Linda C LC; Kindt, Iris I; Gidding, Samuel S SS; Martin, Seth S SS; Moriarty, Patrick M PM; Thompson, Paul P PP; Underberg, James A JA; Guyton, John R JR; Andersen, Rolf L RL; Whellan, David J DJ; Benuck, Irwin I; Kane, John P JP; Myers, Kelly K; Howard, William W; Staszak, David D; Jamison, Allison A; Card, Mary C MC; Bourbon, Mafalda M; Chora, Joana R JR; Rader, Daniel J DJ; Knowles, Joshua W JW; Wilemon, Katherine K; McGowan, Mary P MP
Publication Date: 2023-04-29

Variant appearance in text: LDLR: Cys75Ser
PubMed Link: 37119068
Variant Present in the following documents:
  • JAH3-12-e029175.pdf
  • JAH3-12-e029175-s001.pdf
View BVdb publication page



Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol.

American Journal Of Preventive Cardiology
Warden, Bruce A BA; Miles, Joshua R JR; Oleaga, Carlota C; Ganda, Om P OP; Duell, P Barton PB; Purnell, Jonathan Q JQ; Shapiro, Michael D MD; Fazio, Sergio S
Publication Date: 2020-03

Variant appearance in text: LDLR: Cys75Ser
PubMed Link: 34327453
Variant Present in the following documents:
  • Main text
View BVdb publication page