Mutation details:

Protein level identifier (n.a.):

p.S388ins

cDNA level identifier (n.a.):

c.1163_1164insTTAAGT

Gene level identifier:

g.15751_15752insTTAAGT

Archive identifier/Other designation:

S388ins

Reference, alternative allele:

C, CTTAAGT

Genomic location hg(19)

23:19377760 (not available on ExAC)

Gene name:

PDHA1

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).