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Results for "LAMC3"

Variant Events: 37

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
LAMC3     Stessman2017:ASD_1140chr9:
133920985-133920985
CTexonicUnknownnonsynonymous SNVNM_006059c.C1457Tp.S486F27.1-Stessman2017 T
LAMC3     GX0316.p1chr9:
133907543-133907543
GAexonicPaternalnonsynonymous SNVNM_006059c.G790Ap.D264N33.01.648E-5Guo2018 T
LAMC3     GX0135.p1chr9:
133901936-133901936
GAexonicPaternalnonsynonymous SNVNM_006059c.G638Ap.R213Q37.05.416E-5Guo2018 T
LAMC3     Alvarez-Mora2016:ASD-27chr9:
133967011-133967011
CTexonicMaternalnonsynonymous SNVNM_006059c.C4565Tp.P1522L10.791.0E-4Alvarez-Mora2016 T
LAMC3     Alvarez-Mora2016:ASD-51chr9:
133952638-133952638
GAexonicMaternalnonsynonymous SNVNM_006059c.G3694Ap.A1232T16.47-Alvarez-Mora2016 T
LAMC3     12345.p1chr9:
133957598-133957598
ACintronicDe novo-6.448E-5Satterstrom2020 E
LAMC3     M10105 Complex Event; expand row to view variants  Unknownnonsynonymous SNVNM_006059
NM_006059
c.T743C
c.T743A
p.I248T
p.I248N
26.58.237E-6Stessman2017 T
Stessman2017 T
LAMC3     Alvarez-Mora2016:ASD-40chr9:
133945082-133945082
GAexonicUnknownnonsynonymous SNVNM_006059c.G2914Ap.A972T11.41.656E-5Alvarez-Mora2016 T
LAMC3     M12387chr9:
133944435-133944435
GAexonicUnknownnonsynonymous SNVNM_006059c.G2888Ap.R963Q18.912.487E-5Stessman2017 T
LAMC3     iHART2748chr9:
133884843-133884844
ACAexonicPaternalframeshift deletionNM_006059c.243delCp.D81fs--Ruzzo2019 G
LAMC3     12326.p1chr9:
133884669-133884669
GAexonicDe novononsynonymous SNVNM_006059c.G68Ap.G23D5.046-Satterstrom2020 E
Wilfert2021 G
LAMC3     05C43428chr9:
133914592-133914592
CTexonicUnknownnonsynonymous SNVNM_006059c.C1240Tp.R414C19.322.493E-5Stessman2017 T
LAMC3     2-1246-003chr9:
133901525-133901525
ACintronicDe novo--Yuen2017 G
LAMC3     AU1377302chr9:
133914319-133914319
GAexonicPaternalnonsynonymous SNVNM_006059c.G1045Ap.G349S35.0-Stessman2017 T
LAMC3     217-14404-5130chr9:
133936520-133936520
CTexonicPaternalstopgainNM_006059c.C2257Tp.Q753X39.0-Stessman2017 T
LAMC3     AU1390302chr9:
133914592-133914592
CTexonicUnknownnonsynonymous SNVNM_006059c.C1240Tp.R414C19.322.493E-5Stessman2017 T
LAMC3     iHART1312chr9:
133942593-133942593
GAsplicingMaternalsplicing14.675.778E-5Ruzzo2019 G
LAMC3     M23747chr9:
133932465-133932465
CTexonicMaternalstopgainNM_006059c.C2089Tp.Q697X35.0-Guo2018 T
Wang2016 T
LAMC3     iHART2033chr9:
133928273-133928273
GGCexonicMaternalframeshift insertionNM_006059c.1861dupCp.L620fs--Ruzzo2019 G
LAMC3     11666.p1chr9:
133914290-133914290
AGexonicDe novononsynonymous SNVNM_006059c.A1016Gp.D339G19.64-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
LAMC3     11704.p1chr9:
133952690-133952690
AGexonicDe novononsynonymous SNVNM_006059c.A3746Gp.Y1249C10.13-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
LAMC3     2-1363-003chr9:
133942350-133942350
GAexonicDe novononsynonymous SNVNM_006059c.G2351Ap.R784Q14.495.891E-5Jiang2013 G
Yuen2016 G
Yuen2017 G
LAMC3     215-13223-2463chr9:
133942424-133942424
CTexonicMaternalstopgainNM_006059c.C2425Tp.Q809X37.0-Stessman2017 T
LAMC3     375759chr9:
133966993-133967004
GGCTGCAGCTGGGexonicInheritedframeshift deletionNM_006059c.4548_4558delp.R1516fs--Stessman2017 T
LAMC3     M20699chr9:
133901944-133901944
GAexonicPaternalnonsynonymous SNVNM_006059c.G646Ap.A216T35.01.0E-4Guo2018 T
Wang2016 T
LAMC3     M26778chr9:
133901944-133901944
GAexonicPaternalnonsynonymous SNVNM_006059c.G646Ap.A216T35.01.0E-4Guo2018 T
Wang2016 T
LAMC3     03C16547chr9:
133927895-133927895
CTexonicUnknownstopgainNM_006059c.C1648Tp.Q550X37.0-Stessman2017 T
LAMC3     396656chr9:
133945140-133945140
GAexonicUnknownnonsynonymous SNVNM_006059c.G2972Ap.G991D32.0-Stessman2017 T
LAMC3     M17608chr9:
133927913-133927913
CTexonicUnknownstopgainNM_006059c.C1666Tp.Q556X37.0-Guo2018 T
Wang2016 T
LAMC3     M03553chr9:
133936541-133936541
CTexonicUnknownstopgainNM_006059c.C2278Tp.Q760X35.01.657E-5Guo2018 T
Wang2016 T
LAMC3     14316.p1chr9:
133911720-133911720
GCsplicingPaternalsplicing18.271.743E-5O’Roak2012a T
LAMC3     AU062203chr9:
133927895-133927895
CTexonicPaternalstopgainNM_006059c.C1648Tp.Q550X37.0-Stessman2017 T
LAMC3     53480chr9:
133945236-133945236
ATexonicUnknownnonsynonymous SNVNM_006059c.A3068Tp.E1023V18.93-Stessman2017 T
LAMC3     M19574chr9:
133936524-133936524
CTexonicUnknownnonsynonymous SNVNM_006059c.C2261Tp.P754L24.5-Stessman2017 T
LAMC3     14144.p1chr9:
133942353-133942354
GCGexonicMaternalframeshift deletionNM_006059c.2355delCp.R785fs--O’Roak2012a T
LAMC3     11298.p1chr9:
133954629-133954629
CTexonicMaternalstopgainNM_006059c.C3871Tp.R1291X43.03.379E-5O’Roak2012a T
LAMC3     14404.p1chr9:
133932503-133932503
TAexonicMaternalstopgainNM_006059c.T2127Ap.C709X40.08.282E-6O’Roak2012a T
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
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