LDLR c.2200_2202delinsTTT ;(p.T734F)

Variant ID: 19-11233909-ACA-TTT

NM_000527.4(LDLR):c.2200_2202delinsTTT;(p.T734F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: LDLR: T734F
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
  • fgene-11-00833.pdf
View BVdb publication page



Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
Kim, Hee Nam HN; Kweon, Sun-Seog SS; Shin, Min-Ho MH
Publication Date: 2018-01

Variant appearance in text: LDLR: Thr734Phe
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
  • cmj-54-31.pdf
View BVdb publication page