Variant Results

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Results for "CARMIL3"

Variant Events: 5

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
CARMIL3	NDAR_INVPA848HA2_wes1	chr14: 24524867-24524868	GC	G	intronic		De novo					-	-	Fu2022 E Kosmicki2017 E Satterstrom2020 E
CARMIL3	1-0004-003	chr14: 24533497-24533497	C	T	exonic		De novo	nonsynonymous SNV	NM_138360	c.C3022T	p.R1008C	15.92	9.474E-6	Yuen2017 G
CARMIL3	60-4031	chr14: 24528890-24528890	G	A	exonic		Inherited	nonsynonymous SNV	NM_138360	c.G1817A	p.R606Q	19.81	-	Patowary2019 E
CARMIL3	SP0083020	chr14: 24537806-24537806	C	A	exonic		De novo	synonymous SNV	NM_138360	c.C3696A	p.A1232A	-	-	Fu2022 E
CARMIL3	SP0012111	chr14: 24523933-24523933	C	A	exonic		De novo	nonsynonymous SNV	NM_138360	c.C376A	p.R126S	17.31	-	Fu2022 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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