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Table 1 The novel PAK3 gene variant found in this study

From: Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

Gene

Position

Variants

Zygosity

Inheritance

Frequency

(ExAC/1KG/ InDa)

Prediction

SIFT/PP/MT/CADD_phred

Variant classify following ACMG guideline

PAK3

chrX: 110439071

NM_ 002578: c.1112G > A;

p.Cys371Tyr

Hemi

Maternal

0/0/0

D(0)/ D(0.997)/ D(1)/ 27.7

PM2 + PP1_PM + PP3 + PP4

  1. Annote Hemi, Hemizygous, InDa inhouse database, PP polyphen 2, MT MutationTaster, CADD Combined Annotation Dependent Depletion
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BMC Medical Genetics

ISSN: 1471-2350

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