From: A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics
Gene
NCBI accession number
Nucleotide change
Amino acid change
Exon
Inheritance
Zygosity
ACMG classification
ANO3
NM_031418.2
c.702C > G
p.C234W
Ex7
Unknown
Heterozygous
VUS
MT-ATP6
NC_012920.1
c.473 T > C
p.V158A
Ex1
Maternal
Homoplasmic