LDLR c.2443C>T ;(p.L815F)

Variant ID: 19-11240242-C-T

NM_000527.4(LDLR):c.2443C>T;(p.L815F)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: 2443C>T
PubMed Link: 26608663
Variant Present in the following documents:
  • Main text
View BVdb publication page