Mutation details:

Protein level identifier (NP_000104):

p.Ile119Tyr*9

cDNA level identifier (NM_000113):

c.354dupT

Gene level identifier:

g.1464dupT

Reference, alternative allele:

A, AA

Genomic location hg(19)

9:132584948 (not available on ExAC)

Gene name:

TOR1A

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).