Mutation details:

Protein level identifier (NP_000104):

p.Arg312Gly

cDNA level identifier (NM_000113):

c.934A>G

Gene level identifier:

g.10098A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

9:132576316 (not available on ExAC)

Gene name:

TOR1A

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).