Mutation details:

Protein level identifier (n.a.):

p.His113Asn

cDNA level identifier (n.a.):

c.337C>G

Gene level identifier:

g.7434C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

23:19369444 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).