Variant Results

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Results for "CCT5"

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
CCT5	5-5025-004	chr5: 10255403-10255403	C	T	intronic		De novo					-	-	Trost2022 G
CCT5	SP0136061	chr5: 10250038-10250038	A	C	UTR5		De novo					-	-	Trost2022 G Trost2022 G
CCT5	SP0225985	chr5: 10250039-10250039	A	C	UTR5		De novo					-	-	Trost2022 G Trost2022 G
CCT5	PN400528	chr5: 10263313-10263313	T	G	exonic		De novo	nonsynonymous SNV	NM_001306154 NM_001306155 NM_001306153 NM_001306156 NM_012073	c.T1220G c.T1106G c.T1322G c.T1271G c.T1385G	p.L407R p.L369R p.L441R p.L424R p.L462R	25.1	-	Leblond2019 E
CCT5	REACH000589	chr5: 10256086-10256086	A	G	exonic		De novo	synonymous SNV	NM_001306154 NM_001306155 NM_001306153 NM_001306156 NM_012073	c.A186G c.A72G c.A288G c.A237G c.A351G	p.L62L p.L24L p.L96L p.L79L p.L117L	-	-	Antaki2022 GE Trost2022 G Zhou2022 GE
CCT5	AU2139303	chr5: 10250435-10250435	A	G	UTR5		De novo					-	-	Trost2022 G Trost2022 G Yuen2017 G
CCT5	SP0126772	chr5: 10254830-10254830	A	G	exonic		De novo	nonsynonymous SNV	NM_001306153 NM_001306156 NM_012073	c.A148G c.A97G c.A211G	p.T50A p.T33A p.T71A	26.6	-	Trost2022 G Zhou2022 GE
CCT5	11330.p1	chr5: 10261729-10261729	G	A	exonic		Mosaic	nonsynonymous SNV	NM_001306154 NM_001306155 NM_001306153 NM_001306156 NM_012073	c.G886A c.G772A c.G988A c.G937A c.G1051A	p.E296K p.E258K p.E330K p.E313K p.E351K	27.0	3.295E-5	Dou2017 E

Source Variant Information

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Paper Information

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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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