Mutation details:

cDNA level identifier (NM_031418):

c.-190C>T

Gene level identifier:

g.142805C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

11:26353633 (not available on ExAC)

Gene name:

ANO3

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).