Variant Results

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Results for "RNF43"

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
RNF43	2-1505-004	chr17: 56454779-56454781	CCA	C	intronic		De novo					-	-	Yuen2017 G
RNF43	A6	chr17: 56440414-56440414	A	G	intronic		De novo					-	-	Wu2018 G
RNF43	200675669_1082035054	chr17: 56435546-56435546	G	A	exonic		De novo	nonsynonymous SNV	NM_001305545 NM_001305544 NM_017763	c.C1210T c.C1591T c.C1591T	p.R404C p.R531C p.R531C	15.92	-	Fu2022 E
RNF43	2-0149-005	chr17: 56435257-56435257	A	G	exonic		De novo	nonsynonymous SNV	NM_001305545 NM_001305544 NM_017763	c.T1499C c.T1880C c.T1880C	p.V500A p.V627A p.V627A	0.004	3.0E-4	Yuen2017 G
RNF43	Chen2017:101	chr17: 56435546-56435546	G	A	exonic		De novo	nonsynonymous SNV	NM_001305545 NM_001305544 NM_017763	c.C1210T c.C1591T c.C1591T	p.R404C p.R531C p.R531C	15.92	-	Chen2017 E
RNF43	2-1303-003	chr17: 56440852-56440857	GCCCCC	GCCCCCC	intronic		De novo					-	-	Yuen2017 G
RNF43	09C99829	chr17: 56440852-56440852	G	GC	intronic		De novo					-	-	Satterstrom2020 E
RNF43	SP0101199	chr17: 56438252-56438252	C	A	exonic		De novo	nonsynonymous SNV	NM_001305545 NM_001305544 NM_017763	c.G360T c.G741T c.G741T	p.R120S p.R247S p.R247S	12.59	-	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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