Mutation details:

Protein level identifier (NP_113606):

p.Cys234Trp

cDNA level identifier (NM_031418):

c.702C>G

Gene level identifier:

g.336363C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

11:26547191 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).