Mutation details:

Protein level identifier (n.a.):

p.Leu138Phe

cDNA level identifier (n.a.):

c.412C>T

Gene level identifier:

g.7509C>T

Archive identifier/Other designation:

C412T, (L138F) Exon 4

Reference, alternative allele:

C, T

Genomic location hg(19)

23:19369519 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).