LDLR c.38C>G ;(p.A13G)

Variant ID: 19-11200262-C-G

NM_000527.4(LDLR):c.38C>G;(p.A13G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Discovery of driver non-coding splice-site-creating mutations in cancer.

Nature Communications
Cao, Song S; Zhou, Daniel Cui DC; Oh, Clara C; Jayasinghe, Reyka G RG; Zhao, Yanyan Y; Yoon, Christopher J CJ; Wyczalkowski, Matthew A MA; Bailey, Matthew H MH; Tsou, Terrence T; Gao, Qingsong Q; Malone, Andrew A; Reynolds, Sheila S; Shmulevich, Ilya I; Wendl, Michael C MC; Chen, Feng F; Ding, Li L
Publication Date: 2020-11-04

Variant appearance in text: LDLR: A13G
PubMed Link: 33149122
Variant Present in the following documents:
  • 41467_2020_19307_MOESM7_ESM.xlsx, sheet 11
View BVdb publication page



The curation of genetic variants: difficulties and possible solutions.

Genomics, Proteomics & Bioinformatics
Pandey, Kapil Raj KR; Maden, Narendra N; Poudel, Barsha B; Pradhananga, Sailendra S; Sharma, Amit Kumar AK
Publication Date: 2012-12

Variant appearance in text: LDLR: A13G
PubMed Link: 23317699
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page