Variant Results

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Results for "PAFAH1B2"

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
PAFAH1B2	13942.p1	chr11: 117020068-117020068	A	G	intronic		De novo					-	-	Turner2016 G
PAFAH1B2	1000353666808807-C	chr11: 117034529-117034532	CAGA	C	exonic		De novo	nonframeshift deletion	NM_001309431 NM_001184746 NM_001184747 NM_001184748 NM_002572	c.189_191del c.333_335del c.333_335del c.333_335del c.333_335del	p.63_64del p.111_112del p.111_112del p.111_112del p.111_112del	-	-	Fu2022 E
PAFAH1B2	SP0078633	chr11: 117039161-117039161	C	CTTTTTTTTTTTT	UTR3		De novo					-	-	Fu2022 E
PAFAH1B2	SP0090089	chr11: 117039146-117039149	TTCC	T	UTR3		De novo					-	-	Fu2022 E
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	-	Antaki2022 GE Fu2022 E Lim2017 E
PAFAH1B2	SP0109409	chr11: 117042421-117042421	T	C	exonic		De novo	synonymous SNV	NM_001184746	c.T495C	p.Y165Y	-	-	Fu2022 E
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

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Paper Information

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