Mutation details:

Protein level identifier (n.a.):

p.Phe123Leu

cDNA level identifier (n.a.):

c.367T>C

Gene level identifier:

g.7464T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

23:19369474 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).