Variant Results

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Results for "LYSMD4"

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
LYSMD4	AU058104	chr15: 100285538-100285538	G	A	intergenic		De novo					-	-	Yuen2017 G
LYSMD4	12820_p1	chr15: 100272044-100272044	T	C	exonic		De novo	nonsynonymous SNV	NM_001284417 NM_001284418 NM_001284419 NM_152449	c.A161G c.A161G c.A73G c.A73G	p.E54G p.E54G p.S25G p.S25G	17.83	-	Fu2022 E
LYSMD4	11450.p1	chr15: 100271431-100271431	G	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
LYSMD4	AU4223302	chr15: 100319338-100319338	T	G	intergenic		De novo					-	-	Yuen2017 G
LYSMD4	3-0461-000	chr15: 100270700-100270700	C	G	intronic		De novo					-	-	Trost2022 G
LYSMD4	68583	chr15: 100271431-100271431	G	C	intronic		De novo					-	-	Trost2022 G
LYSMD4	12820.p1	chr15: 100272044-100272044	T	C	exonic		De novo	nonsynonymous SNV	NM_001284417 NM_001284418 NM_001284419 NM_152449	c.A161G c.A161G c.A73G c.A73G	p.E54G p.E54G p.S25G p.S25G	17.83	-	Ji2016 E Krumm2015 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
LYSMD4	1-0046-003	chr15: 100310338-100310338	C	T	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
LYSMD4	SP0033336	chr15: 100269429-100269429	T	C	exonic		De novo	nonsynonymous SNV	NM_001284420 NM_001284417 NM_001284418 NM_001284421 NM_001284419 NM_001284422 NM_152449	c.A607G c.A790G c.A790G c.A412G c.A778G c.A412G c.A793G	p.M203V p.M264V p.M264V p.M138V p.M260V p.M138V p.M265V	0.475	1.647E-5	Trost2022 G Zhou2022 GE
LYSMD4	12360.p1	chr15: 100272044-100272044	T	C	exonic		De novo	nonsynonymous SNV	NM_001284417 NM_001284418 NM_001284419 NM_152449	c.A161G c.A161G c.A73G c.A73G	p.E54G p.E54G p.S25G p.S25G	17.83	-	Ji2016 E

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Paper Information

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