Variant Results

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Results for "ADCY4"

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
ADCY4	152314	chr14: 24791282-24791282	C	T	exonic		De novo	nonsynonymous SNV	NM_001198568 NM_001198592 NM_139247	c.G2576A c.G2576A c.G2576A	p.R859Q p.R859Q p.R859Q	24.8	1.67E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ADCY4	2-1391-003	chr14: 24794412-24794415	GGTT	AAAAAAAAAA	intronic		De novo					-	-	Trost2022 G
ADCY4	SP0093825	chr14: 24791466-24791466	G	A	intronic		De novo					-	-	Fu2022 E
ADCY4	1-0217-003	chr14: 24794412-24794415	GGTT	AAAAAAAAAAA	intronic		De novo					-	-	Trost2022 G
ADCY4	1-0044-003	chr14: 24794412-24794415	GGTT	AAAAAA	intronic		De novo					-	-	Trost2022 G
ADCY4	A31	chr14: 24800140-24800140	A	G	intronic		De novo					-	-	Wu2018 G
ADCY4	mAGRE2633	chr14: 24787892-24787893	TG	T	exonic		Maternal	frameshift deletion	NM_001198568 NM_001198592 NM_139247	c.3048delC c.3048delC c.3048delC	p.R1016fs p.R1016fs p.R1016fs	-	1.648E-5	Cirnigliaro2023 G
ADCY4	EGAN00001100975	chr14: 24803698-24803698	A	C	splicing		De novo	splicing				23.7	2.0E-4	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ADCY4	iHART2633	chr14: 24787892-24787893	TG	T	exonic		Maternal	frameshift deletion	NM_001198568 NM_001198592 NM_139247	c.3048delC c.3048delC c.3048delC	p.R1016fs p.R1016fs p.R1016fs	-	1.648E-5	Ruzzo2019 G

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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