Variant Results

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Results for "PAFAH1B2"

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
PAFAH1B2	AU2427302	chr11: 117023216-117023216	T	C	exonic		De novo	nonsynonymous SNV	NM_001184746 NM_001184747 NM_001184748 NM_002572	c.T53C c.T53C c.T53C c.T53C	p.I18T p.I18T p.I18T p.I18T	12.21	1.0E-4	Yuen2017 G
PAFAH1B2	12438.p1	chr11: 117034592-117034592	C	G	splicing;exonic		De novo	nonsynonymous SNV	NM_001309431 NM_001184746 NM_001184747 NM_002572	c.C251G c.C395G c.C395G c.C395G	p.A84G p.A132G p.A132G p.A132G	27.6	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G
PAFAH1B2	13942.p1	chr11: 117020068-117020068	A	G	intronic		De novo					-	-	Turner2016 G
PAFAH1B2	SSC05260	chr11: 117034592-117034592	C	G	splicing;exonic		De novo	nonsynonymous SNV	NM_001309431 NM_001184746 NM_001184747 NM_002572	c.C251G c.C395G c.C395G c.C395G	p.A84G p.A132G p.A132G p.A132G	27.6	-	Lim2017 E

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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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