ACHE c.289C>T ;(p.Q97*)

Variant ID: 7-100491565-G-A

NM_000665.3(ACHE):c.289C>T;(p.Q97*)

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:

SCN8A mutation in a child presenting with seizures and developmental delays.

Cold Spring Harbor Molecular Case Studies
Malcolmson, Janet J; Kleyner, Robert R; Tegay, David D; Adams, Whit W; Ward, Kenneth K; Coppinger, Justine J; Nelson, Lesa L; Meisler, Miriam H MH; Wang, Kai K; Robison, Reid R; Lyon, Gholson J GJ
Publication Date: 2016-11

Variant appearance in text: ACHE: 289C>T; Gln97Ter
PubMed Link: 27900360
Variant Present in the following documents:
  • supp_mcs.a001073_Supplementary_Table_2.xlsx, sheet 2
  • supp_mcs.a001073_Supplementary_Table_3.xlsx, sheet 2
  • supp_mcs.a001073_Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page