Mutation details:

cDNA level identifier (n.a.):

c.975_976insGGACAGGATGGTGAA

Gene level identifier:

g.13789_13790insGGACAGGATGGTGAA

Archive identifier/Other designation:

N326ins

Reference, alternative allele:

G, GGACAGGATGGTGAA

Genomic location hg(19)

23:19375799 (not available on ExAC)

Gene name:

PDHA1

Consequence:

frameshift

Pathogenicity scoring:

Possibly pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).