Mutation details:

cDNA level identifier (NM_031418):

c.433-2A>G

Gene level identifier:

g.318821A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

11:26529649 (not available on ExAC)

Gene name:

ANO3

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).