Mutation details:

Protein level identifier (NP_000104):

p.Val129Ile

cDNA level identifier (NM_000113):

c.385G>A

Gene level identifier:

g.1495G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

9:132584919

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).