Variant Results

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Results for "C10orf71"

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
C10orf71	11167_p1	chr10: 50534797-50534797	G	A	exonic		De novo	nonsynonymous SNV	NM_001135196	c.G4207A	p.G1403S	12.55	-	Fu2022 E
C10orf71	A13	chr10: 50535008-50535008	G	A	UTR3		De novo					4.265	6.0E-4	Wu2018 G
C10orf71	2-0126-004	chr10: 50569830-50569830	G	C	intergenic		De novo					-	-	Yuen2017 G
C10orf71	AU2142301	chr10: 50527998-50527998	C	CA	intronic		De novo					-	-	Trost2022 G
C10orf71	mAGRE4260	chr10: 50534275-50534275	C	T	exonic		Paternal	stopgain	NM_001135196	c.C3685T	p.R1229X	42.0	-	Cirnigliaro2023 G
C10orf71	7-0342-003	chr10: 50571778-50571778	G	A	intergenic		De novo					-	-	Trost2022 G
C10orf71	11167.p1	chr10: 50534797-50534797	G	A	exonic		De novo	nonsynonymous SNV	NM_001135196	c.G4207A	p.G1403S	12.55	-	Ji2016 E Krumm2015 E Lim2017 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
C10orf71	1-1105-005	chr10: 50526455-50526455	A	G	intronic		De novo					-	-	Trost2022 G
C10orf71	AU3605304	chr10: 50550649-50550649	T	A	intergenic		De novo					-	-	Yuen2017 G
C10orf71	1-0556-003	chr10: 50517410-50517424	ACTCTCTCTCTCTCT	ACTCTCTCTCTCT	intronic		De novo					-	-	Yuen2017 G

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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