Mutation details:

Protein level identifier (n.a.):

p.Gly195Ala

cDNA level identifier (n.a.):

c.584G>C

Gene level identifier:

g.10672G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

23:19372682 (not available on ExAC)

Gene name:

PDHA1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 n.a. (4 in total).

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