Study

Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

Study ID Alternative Stable ID Type
EGAS00001005355 Cancer Genomics

Study Description

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001007742
The cytogenetic analysis of probands was performed with a result of normal male karyotypes (46,XY). The microarray analysis on oligonucleotide 180K CGH+SNP microarray platform was then indicated resulting in a detection of a 8q24.23q24.3 duplication (694 kb) in both probands. The family-based real-time PCR confirmed this CNV in both probands and their unaffected mother. Based on the information obtained from databases mentioned above it was classified as likely benign.
Illumina Genome Analyzer 2

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