COG2 c.1219_1221delinsAAG ;(p.D407K)

Variant ID: 1-230819372-GAT-AAG

NM_007357.2(COG2):c.1219_1221delinsAAG;(p.D407K)

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 Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: LDLC: Asp407Lys
PubMed Link: 33519890
Variant Present in the following documents:
  • fgene-11-572045.pdf
View BVdb publication page