Mutation details:

Protein level identifier (NP_113606):

p.Ser685Gly

cDNA level identifier (NM_031418):

c.2053A>G

Gene level identifier:

g.449872A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

11:26660700 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).