Mutation details:

Protein level identifier (n.a.):

p.Arg302Cys

cDNA level identifier (n.a.):

c.904C>T

Gene level identifier:

g.15028C>T

Archive identifier/Other designation:

C904T, (R302C) Exon 10

Reference, alternative allele:

C, T

Genomic location hg(19)

23:19377038 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).