Variant Results

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Results for "SMARCA4"

Variant Events: 10

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
SMARCA4	DEASD_0072_001	chr19: 11096052-11096052	C	T	exonic		De novo	nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 NM_001128844	c.C326T c.C326T c.C326T c.C326T c.C326T c.C326T c.C326T	p.P109L p.P109L p.P109L p.P109L p.P109L p.P109L p.P109L	32.0	8.409E-6	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
SMARCA4	DEASD_0150_001	chr19: 11097060-11097060	T	C	exonic		De novo	nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 NM_001128844	c.T551C c.T551C c.T551C c.T551C c.T551C c.T551C c.T551C	p.I184T p.I184T p.I184T p.I184T p.I184T p.I184T p.I184T	22.8	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
SMARCA4	1-0169-003	chr19: 11163512-11163512	A	G	intronic		De novo					-	-	Yuen2017 G
SMARCA4	AU4234303	chr19: 11084646-11084646	T	G	intronic		De novo					-	-	Yuen2017 G
SMARCA4	SP0033566	chr19: 11150229-11150231	GGT	G	splicing		Inherited	splicing				-	-	Feliciano2019 E
SMARCA4	Mahjani2021:68	chr19: 11144847-11144847	C	T	exonic			nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 NM_001128844	c.C3823T c.C3823T c.C3823T c.C3823T c.C3922T c.C3922T c.C3922T	p.R1275W p.R1275W p.R1275W p.R1275W p.R1308W p.R1308W p.R1308W	19.3	-	Mahjani2021 E
SMARCA4	Mahjani2021:61	chr19: 11123787-11123787	T	G	exonic			nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 NM_001128844	c.T2437G c.T2437G c.T2437G c.T2437G c.T2437G c.T2437G c.T2437G	p.S813A p.S813A p.S813A p.S813A p.S813A p.S813A p.S813A	27.8	-	Mahjani2021 E
SMARCA4	NDAR_INVJF959YMH_wes1	chr19: 11096936-11096936	C	G	exonic		Mosaic	nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 NM_001128844	c.C427G c.C427G c.C427G c.C427G c.C427G c.C427G c.C427G	p.P143A p.P143A p.P143A p.P143A p.P143A p.P143A p.P143A	14.8	-	Lim2017 E
SMARCA4	1-0259-005	chr19: 11138480-11138480	C	T	exonic		De novo	nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 NM_001128844	c.C3236T c.C3236T c.C3236T c.C3236T c.C3236T c.C3236T c.C3236T	p.S1079L p.S1079L p.S1079L p.S1079L p.S1079L p.S1079L p.S1079L	32.0	-	Yuen2017 G
SMARCA4	NP115	chr19: 11152025-11152025	C	T	exonic		De novo	nonsynonymous SNV	NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_003072 NM_001128844 NM_001128849	c.C4123T c.C4123T c.C4114T c.C4114T c.C4213T c.C4213T c.C4309T	p.R1375W p.R1375W p.R1372W p.R1372W p.R1405W p.R1405W p.R1437W	28.5	-	Satterstrom2020 E

Source Variant Information

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Paper Information

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Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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