Mutation details:

Protein level identifier (n.a.):

p.Lys387*

cDNA level identifier (n.a.):

c.1156_7insT

Gene level identifier:

g.15744_15745insT

Reference, alternative allele:

T, TT

Genomic location hg(19)

23:19377754 (not available on ExAC)

Gene name:

PDHA1

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).