Mutation details:

Protein level identifier (NP_060575):

p.Val2Gly

cDNA level identifier (NM_018105):

c.5T>G

Gene level identifier:

g.236T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

8:42698233 (not available on ExAC)

Gene name:

THAP1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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