LDLR c.1817C>T ;(p.A606V)

Variant ID: 19-11227646-C-T

NM_000527.4(LDLR):c.1817C>T;(p.A606V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: A606V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26

Variant appearance in text: LDLR: A606V
PubMed Link: 26608663
Variant Present in the following documents:
View BVdb publication page