Mutation details:

Protein level identifier (NP_113606):

p.Glu510Lys

cDNA level identifier (NM_031418):

c.1528G>A

Gene level identifier:

g.409164G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

11:26619992 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).