Mutation details:

Protein level identifier (NP_000104):

p.Ala163Val

cDNA level identifier (NM_000113):

c.488C>T

Gene level identifier:

g.5258C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

9:132581156

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).