Mutation details:

Protein level identifier (NP_113606):

p.Arg328Cys

cDNA level identifier (NM_031418):

c.982C>T

Gene level identifier:

g.348130C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

11:26558958

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).