Mutation details:

Protein level identifier (n.a.):

p.Ser312del

cDNA level identifier (n.a.):

c.938_940delAGA

Gene level identifier:

g.15062_15064delAGA

Reference, alternative allele:

AAGT, A

Genomic location hg(19)

23:19377067 (not available on ExAC)

Gene name:

PDHA1

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).