Mutation details:

Protein level identifier (NP_113606):

p.Trp490Cys

cDNA level identifier (NM_031418):

c.1470G>C

Gene level identifier:

g.409106G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

11:26619934 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).