Mutation details:

Protein level identifier (NP_113606):

p.Arg969Gln

cDNA level identifier (NM_031418):

c.2906G>A

Gene level identifier:

g.471123G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

11:26681951

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).