Mutation details:

Protein level identifier (NP_113606):

p.Val561Glu

cDNA level identifier (NM_031418):

c.1682T>A

Gene level identifier:

g.410279T>A

Reference, alternative allele:

T, A

Genomic location hg(19)

11:26621107 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).