Mutation details:

Protein level identifier (n.a.):

p.Arg72Cys

cDNA level identifier (n.a.):

c.214C>T

Gene level identifier:

g.6141C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

23:19368151 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 n.a. (4 in total).