Variant Results

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Results for "RALGAPA1"

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
RALGAPA1	SP0045624	chr14: 36064906-36064906	T	A	exonic		De novo	synonymous SNV	NM_014990 NM_194301 NM_001283043 NM_001283044	c.A5625T c.A5625T c.A5664T c.A5766T	p.T1875T p.T1875T p.T1888T p.T1922T	9.189	-	Fu2022 E
RALGAPA1	SP0078621	chr14: 36159183-36159183	G	A	exonic		De novo	nonsynonymous SNV	NM_001283043 NM_014990 NM_194301 NM_001283044	c.C2293T c.C2293T c.C2293T c.C2434T	p.R765C p.R765C p.R765C p.R812C	17.5	6.659E-5	Fu2022 E
RALGAPA1	1-0292-005	chr14: 36280027-36280027	T	G	intergenic		De novo					-	-	Yuen2017 G
RALGAPA1	SP0112387	chr14: 36230134-36230134	T	A	exonic		De novo	nonsynonymous SNV	NM_001283043 NM_001283044 NM_014990 NM_194301	c.A448T c.A448T c.A448T c.A448T	p.M150L p.M150L p.M150L p.M150L	17.01	-	Fu2022 E
RALGAPA1	SP0056750	chr14: 36217868-36217868	T	G	exonic		De novo	nonsynonymous SNV	NM_001283043 NM_001283044 NM_014990 NM_194301	c.A1174C c.A1174C c.A1174C c.A1174C	p.T392P p.T392P p.T392P p.T392P	22.0	-	Fu2022 E
RALGAPA1	SMHC01239s000	chr14: 36128342-36128343	AC	A	splicing		De novo	splicing				-	-	Yuan2023 E
RALGAPA1	14617_p1	chr14: 36096327-36096330	TAAG	T	exonic		De novo	nonframeshift deletion	NM_014990 NM_194301 NM_001283043 NM_001283044	c.5305_5307del c.5305_5307del c.5344_5346del c.5446_5448del	p.1769_1769del p.1769_1769del p.1782_1782del p.1816_1816del	-	-	Fu2022 E
RALGAPA1	NDAR_INVYC885VDZ_wes1	chr14: 36133921-36133921	T	G	exonic		De novo	nonsynonymous SNV	NM_014990 NM_194301 NM_001283043 NM_001283044	c.A3737C c.A3737C c.A3776C c.A3878C	p.N1246T p.N1246T p.N1259T p.N1293T	25.5	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Satterstrom2020 E
RALGAPA1	AU3984301	chr14: 36285869-36285869	C	T	intergenic		De novo					-	-	Yuen2017 G
RALGAPA1	14617.p1	chr14: 36096327-36096330	TAAG	T	exonic		De novo	nonframeshift deletion	NM_014990 NM_194301 NM_001283043 NM_001283044	c.5305_5307del c.5305_5307del c.5344_5346del c.5446_5448del	p.1769_1769del p.1769_1769del p.1782_1782del p.1816_1816del	-	-	Iossifov2014 E Kosmicki2017 E O’Roak2014 T Satterstrom2020 E Wilfert2021 G

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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