Variant Results

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Results for "DVL3"

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
DVL3	1-0065-004	chr3: 183877212-183877212	T	C	intronic		De novo					-	-	Yuen2017 G
DVL3	M16111	chr3: 183884240-183884240	G	A	exonic		Unknown	nonsynonymous SNV	NM_004423	c.G910A	p.E304K	24.4	-	Stessman2017 T
DVL3	2-1267-003	chr3: 183880370-183880370	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
DVL3	11242_p1	chr3: 183887912-183887912	G	GT	exonic		De novo	frameshift insertion	NM_004423	c.1618dupT	p.Q539fs	-	-	Fu2022 E
DVL3	SP0039649	chr3: 183888090-183888090	C	G	intronic		De novo					-	-	Fu2022 E Trost2022 G
DVL3	2-1398-003	chr3: 183889958-183889958	C	T	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
DVL3	SP0078594	chr3: 183888004-183888004	G	A	exonic		De novo	nonsynonymous SNV	NM_004423	c.G1709A	p.S570N	18.53	-	Fu2022 E Trost2022 G Zhou2022 GE
DVL3	11242.p1	Complex Event; expand row to view variants					De novo	frameshift insertion	NM_004423 NM_004423	c.1618dupT c.1618dupT	p.Q539fs p.Y540fs	-	-	Dong2014 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Trost2022 G Wilfert2021 G Zhou2022 GE
DVL3	1-0323-004	chr3: 183876719-183876719	A	G	intronic		De novo					-	-	Trost2022 G 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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