nstd193 - Teekakirikul et al 2021 - dbVar Study

Organism:: Human
Study Type:: Case-Set
Submitter:: Kylia Williams
Description:: Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD) with ~1-2% prevalence. It frequently underlies valve disease and is a major cause for cardiac surgery. Family studies genetically link BAV to rare left ventricular outflow tract obstructions (LVOTO) including hypoplastic left heart syndrome (HLHS) and coarctation of the aorta (CoA). This study links variants in PCDHA9 to development of LVOTO, consistent with murine studies. See Variant Summary counts for nstd193 in dbVar Variant Summary.
Project:: PRJNA632119
Publication(s):: Teekakirikul et al. 2021

Source: NCBI

Variant Summary

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000005.10	Chr5	1	5	Remapped	NC_000005.10

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000005.9	Chr5	1	5	Submitted	NC_000005.9

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000005.9	Chr5	1	1	0	0	0	0	5	5	0	0	0	0

Samples for sampleset 1
Sample ID	Cell Type	Subject ID	Sex	Subject Phenotype
7693_PCDHA	blood	7693	Male	left ventricular outflow tract obstruction
7408_PCDHA	blood	7408	Male	left ventricular outflow tract obstruction
7592_PCDHA	blood	7592	Male	left ventricular outflow tract obstruction
7432_PCDHA	blood	7432	Male	left ventricular outflow tract obstruction
7119_PCDHA	blood	7119	Male	left ventricular outflow tract obstruction

Experiment ID	Type	Method	Analysis	Number of Variant Calls
2	Discovery	Sequencing	Read depth and paired-end mapping	5
1	Validation	PCR	Genotyping	5

Experiment ID	Method	Analysis	Number of Variant Calls Validated
1	PCR	Genotyping	5