LDLR c.889A>C ;(p.N297H)

Variant ID: 19-11218139-A-C

NM_000527.4(LDLR):c.889A>C;(p.N297H)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.

Jacc. Basic To Translational Science
Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Fernandez-Higuero, José A JA; Jebari-Benslaiman, Shifa S; Galicia-Garcia, Unai U; Uribe, Kepa B KB; Cenarro, Ana A; Ostolaza, Helena H; Civeira, Fernando F; Arrasate, Sonia S; González-Díaz, Humberto H; Martín, César C
Publication Date: 2021-11

Variant appearance in text: LDLR: 889A>C; Asn297His
PubMed Link: 34869944
Variant Present in the following documents:
  • main.pdf
View BVdb publication page