Mutation details:

Protein level identifier (NP_060575):

p.Lys89Lys

cDNA level identifier (NM_018105):

c.267G>A

Gene level identifier:

g.4140G>A

Archive identifier/Other designation:

deletion of exon 2

Reference, alternative allele:

C, T

Genomic location hg(19)

8:42694329 (not available on ExAC)

Gene name:

THAP1

Consequence:

silent

Pathogenicity scoring:

Probably pathogenic

CADD score:

17

Phosphorylation activity:

Positive functional evidence:

21800139;

Number of all included cases:

2 heterozygous (2 in total).

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