Mutation details:

Protein level identifier (NP_000104):

p.Phe205Ile

cDNA level identifier (NM_000113):

c.613T>A

Gene level identifier:

g.5383T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

9:132581031

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

24930953;

Number of all included cases:

1 heterozygous (1 in total).