Variant Results

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Results for "RNH1"

Variant Events: 8

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
RNH1	SP0095905	chr11: 497876-497876	G	A	intronic		De novo					-	-	Fu2022 E
RNH1	AU3790302	chr11: 517273-517273	G	A	intergenic		De novo					-	-	Yuen2017 G
RNH1	2-0129-005	chr11: 499870-499870	G	A	exonic		De novo	synonymous SNV	NM_203384 NM_203385 NM_203388 NM_203389 NM_002939 NM_203383 NM_203386 NM_203387	c.C402T c.C402T c.C402T c.C402T c.C402T c.C402T c.C402T c.C402T	p.C134C p.C134C p.C134C p.C134C p.C134C p.C134C p.C134C p.C134C	-	-	Yuen2015 G Yuen2017 G
RNH1	13447.p1	chr11: 494988-494988	T	G	exonic		De novo	nonsynonymous SNV	NM_203384 NM_203385 NM_203388 NM_203389 NM_002939 NM_203383 NM_203386 NM_203387	c.A1193C c.A1193C c.A1193C c.A1193C c.A1193C c.A1193C c.A1193C c.A1193C	p.H398P p.H398P p.H398P p.H398P p.H398P p.H398P p.H398P p.H398P	1.796	-	Krumm2015 E
RNH1	AU4013301	chr11: 526788-526788	T	C	intergenic		De novo					-	-	Yuen2017 G
RNH1	Kim2020:B33	chr11: 499976-499976	C	T	exonic		De novo	nonsynonymous SNV	NM_203384 NM_203385 NM_203388 NM_203389 NM_002939 NM_203383 NM_203386 NM_203387	c.G296A c.G296A c.G296A c.G296A c.G296A c.G296A c.G296A c.G296A	p.G99E p.G99E p.G99E p.G99E p.G99E p.G99E p.G99E p.G99E	0.001	-	Kim2020 E
RNH1	AU3918302	chr11: 498748-498748	G	A	intronic		De novo					-	1.822E-5	Yuen2017 G
RNH1	SP0000626	chr11: 497980-497980	C	T	exonic		De novo	nonsynonymous SNV	NM_203384 NM_203385 NM_203388 NM_203389 NM_002939 NM_203383 NM_203386 NM_203387	c.G1118A c.G1118A c.G1118A c.G1118A c.G1118A c.G1118A c.G1118A c.G1118A	p.R373Q p.R373Q p.R373Q p.R373Q p.R373Q p.R373Q p.R373Q p.R373Q	6.398	3.361E-5	Feliciano2019 E

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Paper Information

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