Mutation details:

Protein level identifier (NP_113606):

p.Ile607Thr

cDNA level identifier (NM_031418):

c.1820T>C

Gene level identifier:

g.410417T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

11:26621245 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).