Variant Results

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Results for "ZSWIM8"

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
ZSWIM8	SP0099425	chr10: 75545859-75545859	G	A	intronic		De novo					-	-	Fu2022 E Trost2022 G
ZSWIM8	mAGRE5096	chr10: 75549582-75549593	GGTGGGTGAGGT	G	splicing		Maternal	splicing				-	-	Cirnigliaro2023 G
ZSWIM8	SP0119829	chr10: 75550815-75550815	C	G	exonic		De novo	nonsynonymous SNV	NM_001242487 NM_001242488 NM_015037	c.C1024G c.C1024G c.C1024G	p.R342G p.R342G p.R342G	14.89	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
ZSWIM8	13735.p1	chr10: 75560469-75560469	C	G	exonic		De novo	nonsynonymous SNV	NM_001242487 NM_001242488 NM_015037	c.C5083G c.C5059G c.C5098G	p.P1695A p.P1687A p.P1700A	18.76	1.657E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
ZSWIM8	35970	chr10: 75560469-75560469	C	G	exonic		De novo	nonsynonymous SNV	NM_001242487 NM_001242488 NM_015037	c.C5083G c.C5059G c.C5098G	p.P1695A p.P1687A p.P1700A	18.76	1.657E-5	Fu2022 E Trost2022 G
ZSWIM8	SP0151977	chr10: 75545594-75545594	C	T	UTR5		De novo					11.31	-	Trost2022 G
ZSWIM8	MSSNG00125-003	chr10: 75546131-75546133	CAG	C	intronic		De novo					-	-	Trost2022 G
ZSWIM8	SP0045206	chr10: 75551903-75551903	A	G	exonic		De novo	nonsynonymous SNV	NM_001242487 NM_001242488 NM_015037	c.A1606G c.A1606G c.A1606G	p.T536A p.T536A p.T536A	7.182	-	Fu2022 E Trost2022 G Zhou2022 GE
ZSWIM8	SP0012418	chr10: 75551855-75551855	C	T	exonic		De novo	nonsynonymous SNV	NM_001242487 NM_001242488 NM_015037	c.C1558T c.C1558T c.C1558T	p.R520C p.R520C p.R520C	14.93	2.0E-4	Fu2022 E 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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