Variant Results

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Results for "MINDY4"

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
MINDY4	38.s2	chr7: 30898928-30898928	G	C	exonic		De novo	nonsynonymous SNV	NM_032222	c.G1733C	p.R578T	17.11	8.284E-5	An2014 E
MINDY4	iHART1776	chr7: 30821716-30821716	A	T	exonic		Paternal	stopgain	NM_032222	c.A307T	p.K103X	19.91	1.0E-4	Ruzzo2019 G
MINDY4	mAGRE1776	chr7: 30821716-30821716	A	T	exonic		Paternal	stopgain	NM_032222	c.A307T	p.K103X	19.91	1.0E-4	Cirnigliaro2023 G
MINDY4	iHART1777	chr7: 30821716-30821716	A	T	exonic		Paternal	stopgain	NM_032222	c.A307T	p.K103X	19.91	1.0E-4	Ruzzo2019 G
MINDY4	SP0130974	Complex Event; expand row to view variants					De novo	nonsynonymous SNV, nonframeshift substitution, synonymous SNV	NM_032222 NM_032222 NM_032222	c.G737T c.G738T c.737_738TT	p.R246L p.R246R N/A	8.814	-	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE
MINDY4	SP0168810	chr7: 30921909-30921909	G	C	exonic		De novo	nonsynonymous SNV	NM_032222	c.G2085C	p.E695D	9.504	-	Trost2022 G
MINDY4	mAGRE4193	chr7: 30876370-30876370	C	G	exonic		Paternal	stopgain	NM_032222	c.C1229G	p.S410X	29.7	7.469E-5	Cirnigliaro2023 G
MINDY4	mAGRE1777	chr7: 30821716-30821716	A	T	exonic		Paternal	stopgain	NM_032222	c.A307T	p.K103X	19.91	1.0E-4	Cirnigliaro2023 G
MINDY4	653-04-102262	chr7: 30878880-30878881	GT	G	exonic		De novo	frameshift deletion	NM_032222	c.1305delT	p.S435fs	-	8.31E-6	Fu2022 E

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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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