or
or
Exact

Results for "Husson2020"

Variant Events: 32

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
GIGYF1     Husson2020:325chr7:
100279344-100279344		ACexonicstoplossNM_022574c.T3106Gp.X1036G16.48-Husson2020 E
NRXN1     Husson2020:307chr2:
50850520-50850521		CCCexonicframeshift deletionNM_004801
NM_001135659		c.1065delG
c.1164delG		p.V355fs
p.V388fs		--Husson2020 E
RIMS1     Husson2020:122chr6:
72922926-72922926		GAsplicingsplicing10.56-Husson2020 E
KDM5B     Husson2020:341chr1:
202699143-202699143		GAexonicstopgainNM_006618
NM_001314042		c.C4189T
c.C4297T		p.R1397X
p.R1433X		45.08.587E-6Husson2020 E
CHD8     Husson2020:213chr14:
21871619-21871619		GAexonicstopgainNM_001170629
NM_020920		c.C3511T
c.C2674T		p.Q1171X
p.Q892X		26.2-Husson2020 E
DYNC1H1     Husson2020:222chr14:
102467871-102467871		GCsplicingsplicing17.95-Husson2020 E
AUTS2     Husson2020:215chr7:
70228095-70228097		ACAAexonicframeshift deletionNM_001127231
NM_015570		c.983_984del
c.983_984del		p.T328fs
p.T328fs		--Husson2020 E
SHANK3     Husson2020:296chr22:
51159068-51159069		CCCexonicframeshift deletionNM_033517c.2766delCp.A922fs--Husson2020 E
NR2F1     Husson2020:121chr5:
92929460-92929460		GCexonicnonsynonymous SNVNM_005654c.G1184Cp.G395A25.9-Husson2020 E
TSC2     Husson2020:79chr16:
2129329-2129333		GTTGGGexonicframeshift deletionNM_001077183
NM_000548
NM_001114382		c.3053_3056del
c.3185_3188del
c.3185_3188del		p.V1018fs
p.V1062fs
p.V1062fs		--Husson2020 E
EBF3     Husson2020:370chr10:
131761690-131761690		GAexonicstopgainNM_001005463c.C232Tp.Q78X32.0-Husson2020 E
DNMT3A     Husson2020:328chr2:
25471016-25471016		GAexonicstopgainNM_153759
NM_022552
NM_175629		c.C178T
c.C745T
c.C745T		p.Q60X
p.Q249X
p.Q249X		40.08.24E-6Husson2020 E
DEAF1     Husson2020:30chr11:
686991-686991		CTexonicnonsynonymous SNVNM_021008c.G671Ap.R224Q18.37-Husson2020 E
CHD2     Husson2020:382chr15:
93486240-93486245		GTGAAGGexonicframeshift deletionNM_001042572
NM_001271		c.995_999del
c.995_999del		p.V332fs
p.V332fs		--Husson2020 E
SCN2A     Husson2020:78chr2:
166179793-166179794		CCCexonicframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1800delC
c.1800delC
c.1800delC		p.T600fs
p.T600fs
p.T600fs		--Husson2020 E
KMT2A     Husson2020:324chr11:
118376182-118376182		ACexonicnonsynonymous SNVNM_001197104
NM_005933		c.A9575C
c.A9566C		p.Q3192P
p.Q3189P		12.78-Husson2020 E
DYRK1A     Husson2020:47chr21:
38862575-38862575		CTexonicstopgainNM_001396
NM_130436
NM_130438
NM_101395		c.C763T
c.C736T
c.C763T
c.C763T		p.R255X
p.R246X
p.R255X
p.R255X		50.0-Husson2020 E
SHANK3     Husson2020:353chr22:
51159715-51159715		GGGexonicframeshift insertionNM_033517c.3412dupGp.E1138fs--Husson2020 E
SHANK3     Husson2020:377chr22:
51159390-51159391		TCTexonicframeshift deletionNM_033517c.3088delCp.L1030fs--Husson2020 E
ASXL3     Husson2020:85chr18:
31323549-31323549		CAexonicstopgainNM_030632c.C3737Ap.S1246X40.0-Husson2020 E
GRIN2B     Husson2020:136chr12:
14019119-14019119		AAGexonicframeshift insertionNM_000834c.23_24insCp.C8fs--Husson2020 E
SETD2     Husson2020:188chr3:
47139465-47139465		GAexonicDe novostopgainNM_014159c.C5122Tp.R1708X46.0-Husson2020 E
ANK2     Husson2020:253chr4:
114278958-114278958		GTexonicDe novostopgainNM_001148c.G9184Tp.E3062X51.0-Husson2020 E
HECTD4     Husson2020:285chr12:
112622934-112622935		CCCexonicMaternalframeshift deletionNM_001109662c.9433delGp.G3145fs--Husson2020 E
DIP2A     Husson2020:301chr21:
47953562-47953562		TGsplicingMaternalsplicing19.38-Husson2020 E
CHD8     Husson2020:223chr14:
21876931-21876933		TTTTexonicDe novoframeshift deletionNM_001170629
NM_020920		c.2416_2417del
c.1579_1580del		p.K806fs
p.K527fs		--Husson2020 E
MECP2     Husson2020:157chrX:
153296434-153296434		TCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.A881G
c.A845G
c.A566G		p.E294G
p.E282G
p.E189G		13.67-Husson2020 E
NRXN1     Husson2020::98chr2:
50464056-50464057		CCCexonicDe novoframeshift deletionNM_138735
NM_004801
NM_001135659		c.311delG
c.3416delG
c.3536delG		p.W104fs
p.W1139fs
p.W1179fs		--Husson2020 E
CHD8     Husson2020:220chr14:
21870601-21870601		GGGAexonicDe novoframeshift insertionNM_001170629
NM_020920		c.3775_3776insTC
c.2938_2939insTC		p.T1259fs
p.T980fs		--Husson2020 E
ANKRD11     Husson2020:395chr16:
89349490-89349491		CCCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182		c.3459delG
c.3459delG
c.3459delG		p.E1153fs
p.E1153fs
p.E1153fs		--Husson2020 E
SPEN     Husson2020:168chr1:
16259967-16259967		CAexonicDe novostopgainNM_015001c.C7232Ap.S2411X44.0-Husson2020 E
KMT2A     Husson2020:291chr11:
118378325-118378325		GAsplicingPaternalsplicing21.7-Husson2020 E
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us