or
or
Exact

Results for "FLG"

Variant Events: 25

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
FLG     13881.p1chr1:
152277554-152277554		GTexonicDe novononsynonymous SNVNM_002016c.C9808Ap.R3270S3.6116.0E-4Satterstrom2020 E
FLG     13755.p1chr1:
152281464-152281464		AGexonicMosaic, De novosynonymous SNVNM_002016c.T5898Cp.G1966G--Krumm2015 E
Lim2017 E
Zhou2022 GE
FLG     12194.p1chr1:
152285712-152285712		TGexonicDe novosynonymous SNVNM_002016c.A1650Cp.T550T--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
FLG     SSC06325chr1:
152286919-152286921		CCTCexonicDe novoframeshift deletionNM_002016c.441_442delp.T147fs-8.242E-6Trost2022 G
FLG     SSC08607chr1:
152277554-152277554		GTexonicDe novononsynonymous SNVNM_002016c.C9808Ap.R3270S3.6116.0E-4Trost2022 G
FLG     MCD-024-3 Complex Event; expand row to view variants  Paternalframeshift deletionNM_002016
NM_002016		c.3381_3385del
c.3387delT		p.S1127fs
p.S1129fs		-8.238E-6Tuncay2023 G
Tuncay2023 G
FLG     13471.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_002016
NM_002016		c.440_441del
c.441_442del		p.T147fs
p.T147fs		-8.242E-6Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
FLG     MCD-024-3chr1:
152277401-152277401		CTexonicMaternalnonsynonymous SNVNM_002016c.G9961Ap.G3321R11.16-Tuncay2023 G
FLG     MCD-024-3chr1:
152277029-152277029		TCexonicMaternalnonsynonymous SNVNM_002016c.A10333Gp.R3445G6.382-Tuncay2023 G
FLG     SP0033959chr1:
152281822-152281822		GAexonicDe novononsynonymous SNVNM_002016c.C5540Tp.T1847M5.8772.471E-5Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
FLG     SP0084801chr1:
152277935-152277935		TCexonicDe novononsynonymous SNVNM_002016c.A9427Gp.T3143A5.589-Fu2022 E
Zhou2022 GE
FLG     SP0016126chr1:
152277593-152277593		GCexonicDe novononsynonymous SNVNM_002016c.C9769Gp.H3257D10.29-Fu2022 E
Zhou2022 GE
FLG     MCD-024-3chr1:
152282909-152282909		CTexonicMaternalnonsynonymous SNVNM_002016c.G4453Ap.G1485S10.584.942E-5Tuncay2023 G
FLG     12857.p1chr1:
152284429-152284430		GAAGexonicnonframeshift substitutionNM_002016c.2932_2933CTN/A--Zhou2022 GE
FLG     SP0138316chr1:
152275314-152275314		TCexonicDe novosynonymous SNVNM_002016c.A12048Gp.K4016K--Fu2022 E
Zhou2022 GE
FLG     SP0100480chr1:
152282494-152282494		CTexonicDe novononsynonymous SNVNM_002016c.G4868Ap.R1623Q8.5171.647E-5Fu2022 E
Zhou2022 GE
FLG     12194_p1chr1:
152285712-152285712		TGexonicDe novosynonymous SNVNM_002016c.A1650Cp.T550T--Fu2022 E
FLG     Torti2019:10achr1:
152285080-152285084		GACTGGexonicPaternalframeshift deletionNM_002016c.2278_2281delp.Q760fs--Torti2019 T
FLG     SSC09405chr1:
152280317-152280317		CTexonicDe novononsynonymous SNVNM_002016c.G7045Ap.G2349R11.22-Lim2017 E
FLG     Torti2019:10achr1:
152287839-152287839		CAexonicMaternalstopgainNM_002016c.G94Tp.E32X31.02.0E-4Torti2019 T
FLG     MSSNG00403-003chr1:
152286316-152286316		GCexonicnonsynonymous SNVNM_002016c.C1046Gp.S349C8.406-Zhou2022 GE
FLG     Torti2019:7chr1:
152285861-152285861		GAexonicMaternalstopgainNM_002016c.C1501Tp.R501X28.50.0087Torti2019 T
FLG     DEASD_0082_001chr1:
152281756-152281756		CTexonicDe novononsynonymous SNVNM_002016c.G5606Ap.R1869H9.3459.06E-5Lim2017 E
FLG     Torti2019:21chr1:
152285861-152285861		GAexonicMaternalstopgainNM_002016c.C1501Tp.R501X28.50.0087Torti2019 T
FLG     Torti2019:21chr1:
152285080-152285084		GACTGGexonicUnknownframeshift deletionNM_002016c.2278_2281delp.Q760fs--Torti2019 T
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