Variant Results

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Results for "RBBP5"

Variant Events: 9

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
RBBP5	2-1173-003	chr1: 205075697-205075697	G	C	intronic		De novo					-	-	Yuen2017 G
RBBP5	08C72906	chr1: 205069277-205069277	T	C	intronic		De novo					-	5.769E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RBBP5	2-0244-004	chr1: 205093084-205093084	C	T	intergenic		De novo					-	-	Yuen2017 G
RBBP5	SP0018819	chr1: 205069362-205069362	C	A	exonic		De novo	nonsynonymous SNV	NM_001193272 NM_001193273 NM_005057	c.G670T c.G289T c.G670T	p.V224F p.V97F p.V224F	31.0	-	Fu2022 E Trost2022 G Zhou2022 GE
RBBP5	2-0202-004	chr1: 205103327-205103327	C	T	intergenic		De novo					-	-	Yuen2017 G
RBBP5	SP0086220	chr1: 205068157-205068157	A	C	exonic		De novo	nonsynonymous SNV	NM_001193272 NM_001193273 NM_005057	c.T1056G c.T675G c.T1056G	p.F352L p.F225L p.F352L	19.74	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
RBBP5	UK10K_SKUSE5080181	chr1: 205072989-205072989	C	T	exonic		De novo	nonsynonymous SNV	NM_001193272 NM_001193273 NM_005057	c.G518A c.G137A c.G518A	p.G173D p.G46D p.G173D	36.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
RBBP5	7-0298-003	chr1: 205086768-205086768	A	C	intronic		De novo					-	-	Trost2022 G
RBBP5	SP0156421	chr1: 205069130-205069130	C	T	exonic		De novo	nonsynonymous SNV	NM_001193272 NM_001193273 NM_005057	c.G815A c.G434A c.G815A	p.R272Q p.R145Q p.R272Q	24.8	-	Trost2022 G Zhou2022 GE

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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