Variant Results

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Results for "NFKBIL1"

Variant Events: 5

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
NFKBIL1	SSC03232	chr6: 31525439-31525439	C	CTG	exonic		De novo	frameshift insertion	NM_001144961 NM_001144962 NM_001144963 NM_005007	c.369_370insTG c.300_301insTG c.300_301insTG c.369_370insTG	p.R123fs p.R100fs p.R100fs p.R123fs	-	-	Fu2022 E Trost2022 G
NFKBIL1	11808.p1	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_001144961 NM_001144962 NM_001144963 NM_005007 NM_001144961 NM_001144962 NM_001144963 NM_005007	c.369_370insTG c.300_301insTG c.300_301insTG c.369_370insTG c.370_371insTG c.301_302insTG c.301_302insTG c.370_371insTG	p.R123fs p.R100fs p.R100fs p.R123fs p.C124fs p.C101fs p.C101fs p.C124fs	-	-	Dong2014 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Willsey2013 E Zhou2022 GE
NFKBIL1	2-1774-003	chr6: 31525785-31525785	A	C	intronic		De novo					-	-	Trost2022 G
NFKBIL1	MSSNG00032-004	chr6: 31514704-31514704	T	C	UTR5		De novo					-	-	Trost2022 G Trost2022 G
NFKBIL1	MSSNG00066-004	chr6: 31523685-31523685	C	G	intronic		De novo					-	-	Trost2022 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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