Variant Results

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Results for "FAM129B"

Variant Events: 9

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
FAM129B	1-0203-003	chr9: 130289051-130289051	C	A	intronic		De novo					-	-	Yuen2017 G
FAM129B	7-0127-003	chr9: 130273924-130273925	CA	C	intronic		De novo					-	-	Yuen2017 G
FAM129B	SSC11989	chr9: 130279248-130279248	G	A	exonic		De novo	synonymous SNV	NM_001035534 NM_022833	c.C822T c.C861T	p.F274F p.F287F	-	1.651E-5	Fu2022 E
FAM129B	SSC06417	chr9: 130270790-130270790	C	T	exonic		De novo	nonsynonymous SNV	NM_001035534 NM_022833	c.G1306A c.G1345A	p.E436K p.E449K	35.0	-	Fu2022 E Lim2017 E
FAM129B	SP0010889	chr9: 130331037-130331037	G	A	intronic		De novo					-	-	Fu2022 E
FAM129B	SP0035081	chr9: 130270168-130270168	G	A	exonic		De novo	synonymous SNV	NM_001035534 NM_022833	c.C1593T c.C1632T	p.T531T p.T544T	-	1.649E-5	Fu2022 E
FAM129B	12975.p1	chr9: 130270790-130270790	C	T	exonic		De novo	nonsynonymous SNV	NM_001035534 NM_022833	c.G1306A c.G1345A	p.E436K p.E449K	35.0	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G
FAM129B	13942.p1	chr9: 130309744-130309744	T	A	intronic		De novo					-	-	Turner2016 G
FAM129B	13160.p1	chr9: 130279248-130279248	G	A	exonic		De novo	synonymous SNV	NM_001035534 NM_022833	c.C822T c.C861T	p.F274F p.F287F	-	1.651E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E

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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