Mutation details:

Protein level identifier (n.a.):

p.Arg263Gly

cDNA level identifier (n.a.):

c.787C>G

Gene level identifier:

g.11821C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

23:19373831 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

6 n.a. (6 in total).