Variant Results

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Results for "ADCY7"

Variant Events: 10

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
ADCY7	1-0246-004	chr16: 50342455-50342455	C	G	intronic		De novo					-	-	Yuen2017 G
ADCY7	SP0017248	chr16: 50338337-50338337	C	T	exonic		De novo	nonsynonymous SNV	NM_001114 NM_001286057	c.C1435T c.C1435T	p.R479W p.R479W	19.78	-	Fu2022 E
ADCY7	80001103406	chr16: 50348306-50348306	G	A	exonic		De novo	nonsynonymous SNV	NM_001114	c.G2960A	p.R987H	36.0	3.329E-5	Fu2022 E Satterstrom2020 E
ADCY7	CC825_201	chr16: 50325795-50325795	G	A	exonic		De novo	nonsynonymous SNV	NM_001114 NM_001286057	c.G524A c.G524A	p.R175Q p.R175Q	1.826	-	Fu2022 E
ADCY7	AU1795302	chr16: 50324085-50324085	G	A	intronic		De novo					-	-	Yuen2017 G
ADCY7	1-0514-003	chr16: 50351309-50351309	T	C	UTR3		De novo					-	-	Yuen2016 G Yuen2017 G
ADCY7	iHART2489	chr16: 50324569-50324569	C	T	exonic		Maternal	stopgain	NM_001114 NM_001286057	c.C373T c.C373T	p.Q125X p.Q125X	37.0	-	Ruzzo2019 G
ADCY7	SP0072007	chr16: 50338291-50338291	C	T	exonic		De novo	synonymous SNV	NM_001114 NM_001286057	c.C1389T c.C1389T	p.P463P p.P463P	-	-	Fu2022 E
ADCY7	SP0111477	chr16: 50332899-50332899	C	T	exonic		De novo	nonsynonymous SNV	NM_001114 NM_001286057	c.C1033T c.C1033T	p.R345W p.R345W	23.6	1.659E-5	Fu2022 E
ADCY7	Kim2020:B10	chr16: 50327391-50327391	G	A	exonic		De novo	nonsynonymous SNV	NM_001114 NM_001286057	c.G814A c.G814A	p.V272I p.V272I	15.28	8.278E-5	Kim2020 E

Source Variant Information

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Paper Information

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