Mutation details:

Protein level identifier (NP_000104):

p.Arg288Gln

cDNA level identifier (NM_000113):

c.863G>A

Gene level identifier:

g.10027G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

9:132576387

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

24930953;

Number of all included cases:

2 heterozygous (2 in total).