Variant Results

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Results for "CCR3"

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
CCR3	3486_17au	chr3: 46307555-46307555	C	G	exonic		De novo	synonymous SNV	NM_178329 NM_001164680 NM_001837 NM_178328	c.C906G c.C960G c.C906G c.C969G	p.A302A p.A320A p.A302A p.A323A	-	-	Fu2022 E
CCR3	5-0133-003	chr3: 46391813-46391813	A	G	intergenic		De novo					-	-	Yuen2017 G
CCR3	AU1223303	chr3: 46284030-46284030	G	T	splicing		Maternal	splicing				-	-	Cirnigliaro2023 G
CCR3	13534.p1	chr3: 46307288-46307288	C	T	exonic		Mosaic	synonymous SNV	NM_178329 NM_001164680 NM_001837 NM_178328	c.C639T c.C693T c.C639T c.C702T	p.L213L p.L231L p.L213L p.L234L	-	2.476E-5	Dou2017 E Krupp2017 E
CCR3	3-0430-000	chr3: 46342339-46342339	C	A	intergenic		De novo					-	-	Yuen2016 G
CCR3	F9311-1	chr3: 46306851-46306851	A	T	exonic		De novo	nonsynonymous SNV	NM_178329 NM_001164680 NM_001837 NM_178328	c.A202T c.A256T c.A202T c.A265T	p.M68L p.M86L p.M68L p.M89L	13.49	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
CCR3	SSC10290	chr3: 46307387-46307387	G	A	exonic		De novo	synonymous SNV	NM_178329 NM_001164680 NM_001837 NM_178328	c.G738A c.G792A c.G738A c.G801A	p.A246A p.A264A p.A246A p.A267A	-	9.068E-5	Fu2022 E Lim2017 E Trost2022 G
CCR3	AU1223301	chr3: 46284030-46284030	G	T	splicing		Maternal	splicing				-	-	Cirnigliaro2023 G
CCR3	14068.p1	chr3: 46307387-46307387	G	A	exonic		De novo	synonymous SNV	NM_178329 NM_001164680 NM_001837 NM_178328	c.G738A c.G792A c.G738A c.G801A	p.A246A p.A264A p.A246A p.A267A	-	9.068E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE

Source Variant Information

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Paper Information

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