Mutation details:

Protein level identifier (n.a.):

p.Arg378Cys

cDNA level identifier (n.a.):

c.1132C>T

Gene level identifier:

g.15720C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

23:19377730 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).