Variant Results

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Results for "UGT1A1"

Variant Events: 4

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
UGT1A1	Lim2017:37087	chr2: 234676519-234676519	C	T	exonic		De novo	stopgain	NM_000463 NM_001072 NM_007120 NM_019075 NM_019076 NM_019077 NM_019078 NM_019093 NM_021027 NM_205862	c.C1021T c.C1018T c.C1024T c.C1012T c.C1012T c.C1012T c.C1024T c.C1024T c.C1012T c.C217T	p.R341X p.R340X p.R342X p.R338X p.R338X p.R338X p.R342X p.R342X p.R338X p.R73X	23.6	2.471E-5	Lim2017 E
UGT1A1	80001104448	chr2: 234676504-234676504	C	T	exonic		De novo	nonsynonymous SNV	NM_000463 NM_001072 NM_007120 NM_019075 NM_019076 NM_019077 NM_019078 NM_019093 NM_021027 NM_205862	c.C1006T c.C1003T c.C1009T c.C997T c.C997T c.C997T c.C1009T c.C1009T c.C997T c.C202T	p.R336W p.R335W p.R337W p.R333W p.R333W p.R333W p.R337W p.R337W p.R333W p.R68W	17.91	8.237E-6	Satterstrom2020 E
UGT1A1	04HI3434A	chr2: 234675744-234675744	T	G	exonic		De novo	nonsynonymous SNV	NM_000463 NM_001072 NM_007120 NM_019075 NM_019076 NM_019077 NM_019078 NM_019093 NM_021027 NM_205862	c.T929G c.T926G c.T932G c.T920G c.T920G c.T920G c.T932G c.T932G c.T920G c.T125G	p.M310R p.M309R p.M311R p.M307R p.M307R p.M307R p.M311R p.M311R p.M307R p.M42R	24.4	-	Satterstrom2020 E
UGT1A1	14644.p1	chr2: 234676519-234676519	C	T	exonic		De novo	stopgain	NM_000463 NM_001072 NM_007120 NM_019075 NM_019076 NM_019077 NM_019078 NM_019093 NM_021027 NM_205862	c.C1021T c.C1018T c.C1024T c.C1012T c.C1012T c.C1012T c.C1024T c.C1024T c.C1012T c.C217T	p.R341X p.R340X p.R342X p.R338X p.R338X p.R338X p.R342X p.R342X p.R338X p.R73X	23.6	2.471E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Krupp2017 E Krupp2017 E Krupp2017 E Krupp2017 E Krupp2017 E Krupp2017 E Krupp2017 E Krupp2017 E 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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