Variant Results

or

Results for "FLG2"

Variant Events: 13

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

FLG2

SP0085183

chr1:
152328507-152328507

C

T

exonic

De novo

synonymous SNV

NM_001014342

c.G1755A

p.S585S

-

2.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

FLG2

SP0013945

chr1:
152327830-152327830

C

T

exonic

De novo

nonsynonymous SNV

NM_001014342

c.G2432A

p.G811E

9.912

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FLG2

SP0083164

chr1:
152323108-152323108

T

C

exonic

De novo

nonsynonymous SNV

NM_001014342

c.A7154G

p.N2385S

10.84

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FLG2

SP0024029

chr1:
152324534-152324534

C

T

exonic

De novo

nonsynonymous SNV

NM_001014342

c.G5728A

p.E1910K

12.09

8.238E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

FLG2

mAGRE5837

chr1:
152329215-152329219

GGACT

G

exonic

Paternal

frameshift deletion

NM_001014342

c.1043_1046del

p.Q348fs

-

2.0E-4

Cirnigliaro2023 G

FLG2

C221603

chr1:
152325939-152325939

T

C

exonic

De novo

synonymous SNV

NM_001014342

c.A4323G

p.Q1441Q

-

8.237E-6

Fu2022 E

FLG2

mAGRE2259

chr1:
152328665-152328666

GT

G

exonic

Paternal

frameshift deletion

NM_001014342

c.1596delA

p.G532fs

-

Cirnigliaro2023 G

FLG2

mAGRE4831

chr1:
152325479-152325479

G

A

exonic

Paternal

stopgain

NM_001014342

c.C4783T

p.R1595X

39.0

9.888E-5

Cirnigliaro2023 G

FLG2

DEASD_0231_001

chr1:
152327810-152327810

C

T

exonic

De novo

nonsynonymous SNV

NM_001014342

c.G2452A

p.A818T

10.15

7.414E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FLG2

ASC_8696

chr1:
152323094-152323094

T

C

exonic

De novo

nonsynonymous SNV

NM_001014342

c.A7168G

p.R2390G

8.732

-

Fu2022 E

FLG2

Wang2023:232

chr1:
152323766-152323766

T

G

exonic

De novo

nonsynonymous SNV

NM_001014342

c.A6496C

p.T2166P

16.01

-

Wang2023 E

FLG2

7F944

chr1:
152325399-152325399

A

G

exonic

De novo

synonymous SNV

NM_001014342

c.T4863C

p.H1621H

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FLG2

iHART2259

chr1:
152328665-152328666

GT

G

exonic

Paternal

frameshift deletion

NM_001014342

c.1596delA

p.G532fs

-

Ruzzo2019 G

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 notes	View
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