Mutation details:

Protein level identifier (n.a.):

p.Leu216Ser

cDNA level identifier (n.a.):

c.647T>C

Gene level identifier:

g.11500T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

23:19373510 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).