Mutation details:

Protein level identifier (n.a.):

p.Ser388Terfs

cDNA level identifier (n.a.):

c.1163C>A

Gene level identifier:

g.15751C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

23:19377761 (not available on ExAC)

Gene name:

PDHA1

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

44

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).