KCNMA1 c.378+48288T>C

Variant ID: 10-79348735-A-G

NM_001161352.1(KCNMA1):c.378+48288T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Channels (Austin, Tex.)
Miller, Jacob P JP; Moldenhauer, Hans J HJ; Keros, Sotirios S; Meredith, Andrea L AL
Publication Date: 2021-12

Variant appearance in text: rs11002212
PubMed Link: 34224328
Variant Present in the following documents:
  • Main text
  • KCHL_15_1938852.pdf
View BVdb publication page



"Replicated" genome wide association for dependence on illegal substances: genomic regions identified by overlapping clusters of nominally positive SNPs.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Drgon, Tomas T; Johnson, Catherine A CA; Nino, Michelle M; Drgonova, Jana J; Walther, Donna M DM; Uhl, George R GR
Publication Date: 2011-03

Variant appearance in text: rs11002212
PubMed Link: 21302341
Variant Present in the following documents:
  • Main text
View BVdb publication page