Mutation details:

Protein level identifier (n.a.):

p.Val171Argfs*52

cDNA level identifier (n.a.):

c.511-603del

Gene level identifier:

g.10599_10689del

Reference, alternative allele:

G, A

Genomic location hg(19)

23:19372609 (not available on ExAC)

Gene name:

PDHA1

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).