Variant Results

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Results for "ITGA5"

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
ITGA5	200675453_1082034446	chr12: 54797996-54797996	T	G	exonic		De novo	nonsynonymous SNV	NM_002205	c.A1645C	p.T549P	14.87	-	Fu2022 E
ITGA5	mAGRE4852	chr12: 54793733-54793733	T	A	splicing		Paternal	splicing				15.07	1.654E-5	Cirnigliaro2023 G
ITGA5	PN400363	chr12: 54798654-54798654	C	A	exonic		Unknown	nonsynonymous SNV	NM_002205	c.G1397T	p.G466V	23.8	-	Leblond2019 E
ITGA5	10C104461	chr12: 54793722-54793722	C	A	exonic		De novo	stopgain	NM_002205	c.G2800T	p.E934X	43.0	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Neale2012 E O’Roak2014 T Satterstrom2020 E Trost2022 G Willsey2013 E Zhou2022 GE
ITGA5	111309	chr12: 54795576-54795576	C	A	exonic			nonsynonymous SNV	NM_002205	c.G2437T	p.D813Y	24.1	2.471E-5	Woodbury-Smith2022 E
ITGA5	SP0205604	chr12: 54795212-54795212	C	T	exonic		De novo	nonsynonymous SNV	NM_002205	c.G2585A	p.R862Q	9.649	1.648E-5	Trost2022 G
ITGA5	SP0146709	chr12: 54798975-54798975	C	T	exonic		De novo	synonymous SNV	NM_002205	c.G1347A	p.G449G	-	-	Trost2022 G
ITGA5	7-0135-003	chr12: 54796985-54796985	G	A	exonic		De novo	nonsynonymous SNV	NM_002205	c.C2047T	p.R683W	11.73	-	Trost2022 G Yuen2017 G Zhou2022 GE
ITGA5	PN400587	chr12: 54798654-54798654	C	A	exonic		Unknown	nonsynonymous SNV	NM_002205	c.G1397T	p.G466V	23.8	-	Leblond2019 E

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Paper Information

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