Mutation details:

Protein level identifier (NP_060575):

p.Tyr50*

cDNA level identifier (NM_018105):

c.150T>G

Gene level identifier:

g.4023T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

8:42694446 (not available on ExAC)

Gene name:

THAP1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).