Variant Results

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Results for "CPSF7"

Variant Events: 6

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
CPSF7	2-1163-003	chr11: 61178148-61178148	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
CPSF7	5-0077-003	chr11: 61183968-61183968	G	A	exonic		De novo	stopgain	NM_001136040 NM_001142565 NM_024811	c.C574T c.C547T c.C703T	p.R192X p.R183X p.R235X	17.08	-	Yuen2017 G
CPSF7	11039.p1	chr11: 61187420-61187420	C	T	splicing;exonic		Mosaic	nonsynonymous SNV	NM_001136040 NM_024811	c.G524A c.G653A	p.R175H p.R218H	18.0	-	Dou2017 E
CPSF7	SP0080176	chr11: 61188557-61188557	G	A	intronic		De novo					-	-	Fu2022 E
CPSF7	G01-GEA-24-HI	chr11: 61183869-61183869	A	T	exonic		De novo	nonsynonymous SNV	NM_001136040 NM_001142565 NM_024811	c.T673A c.T646A c.T802A	p.F225I p.F216I p.F268I	24.7	-	Fu2022 E Lim2017 E Satterstrom2020 E
CPSF7	SP0064532	chr11: 61183901-61183901	C	T	exonic		De novo	nonsynonymous SNV	NM_001136040 NM_001142565 NM_024811	c.G641A c.G614A c.G770A	p.R214H p.R205H p.R257H	17.74	8.264E-6	Antaki2022 GE Fu2022 E

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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