CHRNB2 c.1026G>C ;(p.K342N)

Variant ID: 1-154544325-G-C

NM_000748.2(CHRNB2):c.1026G>C;(p.K342N)

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:

Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: CHRNB2: 1026G>C; Lys342Asn
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page