Variant Results

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Results for "FAM189B"

Variant Events: 10

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
FAM189B	PN400317	chr1: 155217661-155217661	C	T	exonic		Unknown	nonsynonymous SNV	NM_198264 NM_001267608 NM_006589	c.G1631A c.G1865A c.G1919A	p.R544Q p.R622Q p.R640Q	24.1	4.87E-5	Leblond2019 E
FAM189B	2-1148-003	chr1: 155224228-155224228	A	G	exonic			nonsynonymous SNV	NM_006589	c.T245C	p.V82A	21.6	8.251E-6	Zhou2022 GE
FAM189B	AU01303	chr1: 155217658-155217658	C	T	exonic		De novo	nonsynonymous SNV	NM_198264 NM_001267608 NM_006589	c.G1634A c.G1868A c.G1922A	p.R545H p.R623H p.R641H	21.0	1.0E-4	Lim2017 E
FAM189B	mAGRE2827	chr1: 155220614-155220614	T	C	splicing		Paternal	splicing				18.05	5.0E-4	Cirnigliaro2023 G
FAM189B	mAGRE2234	chr1: 155220614-155220614	T	C	splicing		Paternal	splicing				18.05	5.0E-4	Cirnigliaro2023 G
FAM189B	mAGRE2233	chr1: 155220614-155220614	T	C	splicing		Paternal	splicing				18.05	5.0E-4	Cirnigliaro2023 G
FAM189B	5-0004-003	chr1: 155222738-155222738	G	A	intronic		De novo					-	-	Yuen2017 G
FAM189B	1-0483-004	chr1: 155217239-155217239	A	G	UTR3		De novo					10.43	-	Trost2022 G
FAM189B	mAGRE1334	chr1: 155223664-155223664	G	A	exonic		Maternal	stopgain	NM_001267608 NM_006589	c.C442T c.C499T	p.R148X p.R167X	24.2	-	Cirnigliaro2023 G
FAM189B	ASC_4A370-9B187	chr1: 155217631-155217631	C	G	exonic		De novo	nonsynonymous SNV	NM_198264 NM_001267608 NM_006589	c.G1661C c.G1895C c.G1949C	p.R554P p.R632P p.R650P	9.166	-	Fu2022 E

Source Variant Information

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Paper Information

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