APOE c.469T>A ;(p.S157T)

Variant ID: 19-45412022-T-A

NM_000041.2(APOE):c.469T>A;(p.S157T)

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:

Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Elife
Simkin, Dina D; Marshall, Kelly A KA; Vanoye, Carlos G CG; Desai, Reshma R RR; Bustos, Bernabe I BI; Piyevsky, Brandon N BN; Ortega, Juan A JA; Forrest, Marc M; Robertson, Gabriella L GL; Penzes, Peter P; Laux, Linda C LC; Lubbe, Steven J SJ; Millichap, John J JJ; George, Alfred L AL; Kiskinis, Evangelos E
Publication Date: 2021-02-05

Variant appearance in text: APOE: S157T; rs998239069
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page


Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Elife
Simkin, Dina D; Marshall, Kelly A KA; Vanoye, Carlos G CG; Desai, Reshma R RR; Bustos, Bernabe I BI; Piyevsky, Brandon N BN; Ortega, Juan A JA; Forrest, Marc M; Robertson, Gabriella L GL; Penzes, Peter P; Laux, Linda C LC; Lubbe, Steven J SJ; Millichap, John J JJ; George, Alfred L AL; Kiskinis, Evangelos E
Publication Date: 2021-02-05

Variant appearance in text: APOE: S157T; rs998239069
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page