Variant Results

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Results for "DISC1"

Variant Events: 7

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
DISC1	SMHC01862d000	chr1: 232144797-232144797	T	G	splicing;exonic		De novo	nonsynonymous SNV	NM_001164538	c.T2309G	p.V770G	12.41	-	Yuan2023 E
DISC1	SP0143572	chr1: 231830495-231830495	A	G	exonic		De novo	nonsynonymous SNV	NM_001012957 NM_001012958 NM_001012959 NM_001164537 NM_001164538 NM_001164539 NM_001164540 NM_001164541 NM_001164542 NM_001164544 NM_001164545 NM_001164546 NM_001164547 NM_001164548 NM_001164549 NM_001164550 NM_001164551 NM_001164552 NM_001164553 NM_001164554 NM_001164555 NM_018662	c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G c.A991G	p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G p.R331G	7.268	-	Fu2022 E
DISC1	12343.p1	chr1: 231829616-231829616	C	T	exonic		De novo	nonsynonymous SNV	NM_001012957 NM_001012958 NM_001012959 NM_001164537 NM_001164538 NM_001164539 NM_001164540 NM_001164541 NM_001164542 NM_001164544 NM_001164545 NM_001164546 NM_001164547 NM_001164548 NM_001164549 NM_001164550 NM_001164551 NM_001164552 NM_001164553 NM_001164554 NM_001164555 NM_018662	c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T	p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W	19.06	8.249E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Wilfert2021 G
DISC1	12429.p1	chr1: 231935948-231935948	C	G	exonic		Mosaic, De novo	nonsynonymous SNV	NM_001164540 NM_001012957 NM_001012959 NM_001164538 NM_001164539 NM_001164541 NM_001164542 NM_001164544 NM_018662 NM_001164537	c.C1418G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1880G	p.A473G p.A595G p.A595G p.A595G p.A595G p.A595G p.A595G p.A595G p.A595G p.A627G	20.4	-	Dou2017 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
DISC1	SSC04465	chr1: 231829616-231829616	C	T	exonic		De novo	nonsynonymous SNV	NM_001012957 NM_001012958 NM_001012959 NM_001164537 NM_001164538 NM_001164539 NM_001164540 NM_001164541 NM_001164542 NM_001164544 NM_001164545 NM_001164546 NM_001164547 NM_001164548 NM_001164549 NM_001164550 NM_001164551 NM_001164552 NM_001164553 NM_001164554 NM_001164555 NM_018662	c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T c.C112T	p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W p.R38W	19.06	8.249E-5	Fu2022 E
DISC1	Kenny2014:10	chr1: 232144803-232144804	CT	C	exonic		Unknown	frameshift deletion	NM_001164538	c.2316delT	p.P772fs	-	8.493E-6	Kenny2014 T
DISC1	SSC04771	chr1: 231935948-231935948	C	G	exonic		De novo	nonsynonymous SNV	NM_001164540 NM_001012957 NM_001012959 NM_001164538 NM_001164539 NM_001164541 NM_001164542 NM_001164544 NM_018662 NM_001164537	c.C1418G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1784G c.C1880G	p.A473G p.A595G p.A595G p.A595G p.A595G p.A595G p.A595G p.A595G p.A595G p.A627G	20.4	-	Fu2022 E Lim2017 E

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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