APOB c.1773C>T ;(p.N591=)

Variant ID: 2-21251255-G-A

NM_000384.2(APOB):c.1773C>T;(p.N591=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOB: 1773C>T; Asn591=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.

Experimental And Therapeutic Medicine
Cheng, Xinyao X; Huang, Yifang Y; Qiu, Xueping X; Cheng, Xiaohuan X; Jin, Yalei Y; Hu, Yafei Y; Yang, Bing B; Zhao, Jingbo J; Lei, Yuhua Y; Zheng, Fang F
Publication Date: 2018-08

Variant appearance in text: APOB: 1773C>T; Asn591Asn
PubMed Link: 30112042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY
Publication Date: 2013-12-27

Variant appearance in text: APOB: Asn591=
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-128.pdf
View BVdb publication page