Variant Results

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Results for "TMEM51"

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
TMEM51	3-0197-000	chr1: 15503915-15503923	AGGGAAGTC	A	intronic		De novo					-	-	Trost2022 G
TMEM51	MSSNG00027-004	chr1: 15541621-15541621	C	T	exonic		De novo	nonsynonymous SNV	NM_001136217 NM_018022 NM_001136216 NM_001136218	c.C38T c.C38T c.C38T c.C38T	p.A13V p.A13V p.A13V p.A13V	34.0	2.0E-4	Trost2022 G
TMEM51	3-0612-000	chr1: 15519545-15519545	G	T	intronic		De novo					-	-	Trost2022 G
TMEM51	1-0458-003	chr1: 15544615-15544615	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
TMEM51	1-0609-003	chr1: 15550271-15550271	C	T	intergenic		De novo					-	-	Yuen2017 G
TMEM51	MSSNG00422-004	chr1: 15542072-15542072	C	T	intronic		De novo					-	-	Trost2022 G
TMEM51	AU0255-0202	chr1: 15546034-15546034	C	T	exonic		De novo	nonsynonymous SNV	NM_001136217 NM_018022 NM_001136216 NM_001136218	c.C557T c.C557T c.C557T c.C557T	p.P186L p.P186L p.P186L p.P186L	11.44	-	Fu2022 E
TMEM51	AU1404301	chr1: 15571521-15571521	G	A	intergenic		De novo					-	-	Yuen2017 G
TMEM51	CC1403_203	chr1: 15546185-15546185	A	C	exonic		De novo	synonymous SNV	NM_001136217 NM_018022 NM_001136216 NM_001136218	c.A708C c.A708C c.A708C c.A708C	p.P236P p.P236P p.P236P p.P236P	-	-	Fu2022 E
TMEM51	DEASD_0148_001	chr1: 15545879-15545879	C	T	exonic		De novo	synonymous SNV	NM_001136217 NM_018022 NM_001136216 NM_001136218	c.C402T c.C402T c.C402T c.C402T	p.Y134Y p.Y134Y p.Y134Y p.Y134Y	-	8.396E-6	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE

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Paper Information

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