Mutation details:

cDNA level identifier (n.a.):

SVA

Genomic location hg(38)

not available

Gene name:

TAF1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous, 414 n.a. (417 in total).

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