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Results for "DISC1"

Variant Events: 12

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     SMHC01862d000chr1:
232144797-232144797		TGsplicing;exonicDe novononsynonymous SNVNM_001164538c.T2309Gp.V770G12.41-Yuan2023 E
DISC1     SP0143572chr1:
231830495-231830495		AGexonicDe novononsynonymous SNVNM_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
Trost2022 G
Zhou2022 GE
DISC1     12343.p1chr1:
231829616-231829616		CTexonicDe novononsynonymous SNVNM_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		19.068.249E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
DISC1     12429.p1chr1:
231935948-231935948		CGexonicMosaic, De novononsynonymous SNVNM_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
Zhou2022 GE
DISC1     SSC04465chr1:
231829616-231829616		CTexonicDe novononsynonymous SNVNM_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		19.068.249E-5Fu2022 E
Trost2022 G
DISC1     mAGRE4094chr1:
232162292-232162296		CTCATCexonicMaternalframeshift deletionNM_001164540
NM_001012957
NM_018662
NM_001164537		c.2054_2057del
c.2354_2357del
c.2420_2423del
c.2516_2519del		p.L685fs
p.L785fs
p.L807fs
p.L839fs		-5.0E-4Cirnigliaro2023 G
DISC1     Kenny2014:10chr1:
232144803-232144804		CTCexonicUnknownframeshift deletionNM_001164538c.2316delTp.P772fs-8.493E-6Kenny2014 T
DISC1     mAGRE4093chr1:
232162292-232162296		CTCATCexonicMaternalframeshift deletionNM_001164540
NM_001012957
NM_018662
NM_001164537		c.2054_2057del
c.2354_2357del
c.2420_2423del
c.2516_2519del		p.L685fs
p.L785fs
p.L807fs
p.L839fs		-5.0E-4Cirnigliaro2023 G
DISC1     mAGRE1589chr1:
232162292-232162296		CTCATCexonicMaternalframeshift deletionNM_001164540
NM_001012957
NM_018662
NM_001164537		c.2054_2057del
c.2354_2357del
c.2420_2423del
c.2516_2519del		p.L685fs
p.L785fs
p.L807fs
p.L839fs		-5.0E-4Cirnigliaro2023 G
DISC1     AU3861302chr1:
232162292-232162296		CTCATCexonicPaternalframeshift deletionNM_001164540
NM_001012957
NM_018662
NM_001164537		c.2054_2057del
c.2354_2357del
c.2420_2423del
c.2516_2519del		p.L685fs
p.L785fs
p.L807fs
p.L839fs		-5.0E-4Cirnigliaro2023 G
DISC1     AU3861301chr1:
232162292-232162296		CTCATCexonicPaternalframeshift deletionNM_001164540
NM_001012957
NM_018662
NM_001164537		c.2054_2057del
c.2354_2357del
c.2420_2423del
c.2516_2519del		p.L685fs
p.L785fs
p.L807fs
p.L839fs		-5.0E-4Cirnigliaro2023 G
DISC1     SSC04771chr1:
231935948-231935948		CGexonicDe novononsynonymous SNVNM_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
Trost2022 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notesView
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