Mutation details:

cDNA level identifier (n.a.):

c.759+26G>A

Gene level identifier:

g.16638G>A

Archive identifier/Other designation:

IVS7+26G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

23:19373648 (not available on ExAC)

Gene name:

PDHA1

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

10

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 n.a. (2 in total).