Mutation details:

Protein level identifier (NP_060575):

p.Leu180Ser

cDNA level identifier (NM_018105):

c.539T>C

Gene level identifier:

g.5261T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

8:42693208 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

24862462;

Number of all included cases:

1 heterozygous (1 in total).

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