AHSA1 c.417A>C ;(p.E139D)

Variant ID: 14-77929047-A-C

NM_012111.2(AHSA1):c.417A>C;(p.E139D)

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: AHSA1: E139D
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: AHSA1: E139D
PubMed Link: 33544076
Variant Present in the following documents:
  • elife-64434-supp3.xlsx, sheet 1
View BVdb publication page