Variant Results

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Results for "SRSF1"

Variant Events: 8

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
SRSF1	2-1120-003	chr17: 56145799-56145799	C	T	intergenic		De novo					-	-	Yuen2017 G
SRSF1	SP0080453	chr17: 56083179-56083179	T	C	exonic		De novo	nonsynonymous SNV	NM_001078166 NM_006924	c.A535G c.A535G	p.K179E p.K179E	15.16	-	Antaki2022 GE Fu2022 E
SRSF1	iHART2091	chr17: 56084441-56084441	C	T	exonic		De novo	nonsynonymous SNV	NM_001078166 NM_006924	c.G58A c.G58A	p.V20M p.V20M	16.71	-	Ruzzo2019 G
SRSF1	7-0008-003	chr17: 56086516-56086516	A	C	intergenic		De novo					-	-	Yuen2017 G
SRSF1	AU1438304	chr17: 56084441-56084441	C	T	exonic		De novo	nonsynonymous SNV	NM_001078166 NM_006924	c.G58A c.G58A	p.V20M p.V20M	16.71	-	Fu2022 E Satterstrom2020 E
SRSF1	Marques2022:122	chr17: 56083297-56083297	A	C	exonic			nonsynonymous SNV	NM_001078166 NM_006924	c.T417G c.T417G	p.D139E p.D139E	13.02	-	Marques2022 ET
SRSF1	Marques2022:123	chr17: 56084441-56084441	C	T	exonic			nonsynonymous SNV	NM_001078166 NM_006924	c.G58A c.G58A	p.V20M p.V20M	16.71	-	Marques2022 ET
SRSF1	AU3517302	chr17: 56103762-56103771	CCTTTCTTTC	CCTTTC	intergenic		De novo					-	-	Yuen2017 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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