Mutation details:

cDNA level identifier (NM_018105):

c.268-2A>G

Gene level identifier:

g.4988A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

8:42693481 (not available on ExAC)

Gene name:

THAP1

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).