Mutation details:

Protein level identifier (n.a.):

p.Arg235Gly

cDNA level identifier (n.a.):

c.703A>G

Gene level identifier:

g.11556A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

23:19373566 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 n.a. (4 in total).