Mutation details:

Protein level identifier (NP_060575):

p.Lys24Glu

cDNA level identifier (NM_018105):

c.70A>G

Gene level identifier:

g.301A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42698168 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

21847143;

Number of all included cases:

1 heterozygous (1 in total).

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