Variant Results

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Results for "NFXL1"

Variant Events: 6

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
NFXL1	12070.p1	chr4: 47900786-47900786	C	A	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001278623 NM_001278624 NM_152995	c.G1077T c.G1077T c.G1077T	p.W359C p.W359C p.W359C	18.92	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Wilfert2021 G
NFXL1	Shi2013:2	chr4: 47916214-47916214	C	T	exonic		Inherited	nonsynonymous SNV	NM_001278623 NM_001278624 NM_152995	c.G7A c.G7A c.G7A	p.A3T p.A3T p.A3T	23.5	2.0E-4	Shi2013 G
NFXL1	160650	chr4: 47853937-47853937	C	T	exonic		De novo	nonsynonymous SNV	NM_001278623 NM_001278624 NM_152995	c.G2444A c.G2444A c.G2444A	p.R815H p.R815H p.R815H	24.2	-	Fu2022 E
NFXL1	12070_p1	chr4: 47900786-47900786	C	A	exonic		De novo	nonsynonymous SNV	NM_001278623 NM_001278624 NM_152995	c.G1077T c.G1077T c.G1077T	p.W359C p.W359C p.W359C	18.92	-	Fu2022 E
NFXL1	Shi2013:1	chr4: 47916214-47916214	C	T	exonic		Inherited	nonsynonymous SNV	NM_001278623 NM_001278624 NM_152995	c.G7A c.G7A c.G7A	p.A3T p.A3T p.A3T	23.5	2.0E-4	Shi2013 G
NFXL1	1-0972-003	chr4: 47902371-47902371	T	C	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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Pubmed
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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