ACHE c.394G>T ;(p.V132L)

Variant ID: 7-100491460-C-A

NM_000665.3(ACHE):c.394G>T;(p.V132L)

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:

Further observations in congenital myasthenic syndromes.

Annals Of The New York Academy Of Sciences
Engel, Andrew G AG; Shen, Xin-Ming XM; Selcen, Duygu D; Sine, Steven M SM
Publication Date: 2008

Variant appearance in text: ACHE: V132L
PubMed Link: 18567859
Variant Present in the following documents:
  • Main text
View BVdb publication page