Mutation details:

Protein level identifier (n.a.):

p.Tyr243Ser

cDNA level identifier (n.a.):

c.728A>C

Gene level identifier:

g.11467T>C

Archive identifier/Other designation:

Y243S

Reference, alternative allele:

A, C

Genomic location hg(19)

23:19373591 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).