Mutation details:

Protein level identifier (n.a.):

p.Arg127Gln

cDNA level identifier (n.a.):

c.380G>A

Gene level identifier:

g.7477G>A

Archive identifier/Other designation:

R127Q

Reference, alternative allele:

G, A

Genomic location hg(19)

23:19369487 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).