Mutation details:

Protein level identifier (NP_000104):

p.Thr321Met

cDNA level identifier (NM_000113):

c.962C>T

Gene level identifier:

g.10126C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

9:132576288

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).

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