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Results for "FLG"

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
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     Torti2019:7chr1:
152285861-152285861
GAexonicMaternalstopgainNM_002016c.C1501Tp.R501X28.50.0087Torti2019 T
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
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
FLG     12194.p1chr1:
152285712-152285712
TGexonicDe novosynonymous SNVNM_002016c.A1650Cp.T550T--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FLG     SP0033959chr1:
152281822-152281822
GAexonicDe novononsynonymous SNVNM_002016c.C5540Tp.T1847M5.8772.471E-5Feliciano2019 E
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

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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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