Mutation details:

Protein level identifier (NP_060575):

p.Asn12Lys

cDNA level identifier (NM_018105):

c.36C>A

Gene level identifier:

g.267C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

8:42698202 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).