Mutation details:

Protein level identifier (NP_060575):

p.Pro26Arg

cDNA level identifier (NM_018105):

c.77C>G

Gene level identifier:

g.3950C>G

Reference, alternative allele:

G, C

Genomic location hg(19)

8:42694519 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).