Mutation details:

Protein level identifier (NP_113606):

p.Gly973Arg

cDNA level identifier (NM_031418):

c.2917G>C

Gene level identifier:

g.471134G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

11:26681962 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).