LDLR c.941-2A>C

Variant ID: 19-11221326-A-C

NM_000527.4(LDLR):c.941-2A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.

Frontiers In Genetics
Diboun, Ilhame I; Al-Sarraj, Yasser Y; Toor, Salman M SM; Mohammed, Shaban S; Qureshi, Nadeem N; Al Hail, Moza S H MSH; Jayyousi, Amin A; Al Suwaidi, Jassim J; Albagha, Omar M E OME
Publication Date: 2022

Variant appearance in text: rs112366278
PubMed Link: 35910211
Variant Present in the following documents:
  • Main text
  • fgene-13-927504.pdf
View BVdb publication page



Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis
Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2022-08-01

Variant appearance in text: rs112366278
PubMed Link: 34456200
Variant Present in the following documents:
  • jat-29-1176.pdf
View BVdb publication page



The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: rs112366278
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page