Mutation details:

Protein level identifier (n.a.):

p.Gly278Arg

cDNA level identifier (n.a.):

c.832G>A

Gene level identifier:

g.13760G>A

Archive identifier/Other designation:

G278R

Reference, alternative allele:

G, A

Genomic location hg(19)

23:19375770 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 n.a. (2 in total).