present in Gene: SHANK3
present in Chromosome: 22
Position on Chromosome: 50721505
Alleles of this Variant: G/-;GG
rs762292772 in
SHANK3 gene and
ATRIAL SEPTAL DEFECT 1
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
rs762292772 in
SHANK3 gene and
Atrial Septal Defects
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
rs762292772 in
SHANK3 gene and
Autism Spectrum Disorders
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.