Variant Results

or

or

Results for "IQSEC3"

Variant Events: 27

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

IQSEC3

AU078503

chr12:
286642-286642

C

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

IQSEC3

A10

chr12:
192675-192675

G

A

intronic

De novo

-

-

Wu2018 G

IQSEC3

7-0119-003

chr12:
235741-235741

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IQSEC3

2-1239-003

chr12:
236215-236215

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

IQSEC3

1-0998-003

chr12:
281494-281500

GCCCCCC

GCCCCCCC

intronic

De novo

-

-

Yuen2017 G

IQSEC3

111305

chr12:
266860-266860

G

A

exonic

nonsynonymous SNV

NM_015232
NM_001170738

c.G1534A
c.G2443A

p.G512S
p.G815S

25.7

-

Woodbury-Smith2022 E

IQSEC3

ASC_CA_188_A

chr12:
248096-248096

G

A

exonic

De novo

nonsynonymous SNV

NM_015232
NM_001170738

c.G658A
c.G1567A

p.A220T
p.A523T

12.56

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IQSEC3

2-0057-003

chr12:
295451-295453

CAG

C

intergenic

De novo

-

-

Yuen2017 G

IQSEC3

SP0046962

chr12:
278237-278237

G

C

exonic

De novo

nonsynonymous SNV

NM_015232
NM_001170738

c.G2121C
c.G3030C

p.Q707H
p.Q1010H

18.53

-

Fu2022 E
Trost2022 G
Zhou2022 GE

IQSEC3

SP0028690

chr12:
186507-186507

C

T

intronic

De novo

-

-

Fu2022 E

IQSEC3

11031.p1

chr12:
247738-247738

C

G

exonic

synonymous SNV

NM_015232
NM_001170738

c.C300G
c.C1209G

p.T100T
p.T403T

-

-

Zhou2022 GE

IQSEC3

Wang2023:262

chr12:
208328-208328

C

T

exonic

De novo

nonsynonymous SNV

NM_001170738

c.C571T

p.H191Y

15.78

-

Wang2023 E

IQSEC3

1-0354-003

chr12:
267079-267079

G

A

intronic

De novo

-

-

Yuen2017 G

IQSEC3

1-0303-004

chr12:
227519-227519

T

AA

intronic

De novo

-

-

Trost2022 G

IQSEC3

ASC_NP275

chr12:
247972-247972

C

T

exonic

De novo

synonymous SNV

NM_015232
NM_001170738

c.C534T
c.C1443T

p.L178L
p.L481L

-

-

Fu2022 E

IQSEC3

SP0087833

chr12:
234933-234933

C

T

exonic

De novo

nonsynonymous SNV

NM_001170738

c.C758T

p.P253L

17.82

Trost2022 G

IQSEC3

4-0074-003

chr12:
202613-202613

G

A

intronic

De novo

-

-

Trost2022 G

IQSEC3

MT_183.3

chr12:
208612-208612

G

A

intronic

De novo

-

-

Trost2022 G

IQSEC3

2-1277-003

chr12:
258663-258663

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IQSEC3

SP0203844

chr12:
271057-271057

C

A

intronic

De novo

-

-

Trost2022 G

IQSEC3

1-0670-003

chr12:
281752-281752

C

T

intronic

De novo

-

-

Trost2022 G

IQSEC3

5-0009-003

chr12:
262063-262063

C

G

intronic

De novo

-

-

Trost2022 G

IQSEC3

SP0111799

chr12:
271057-271057

C

A

intronic

De novo

-

-

Trost2022 G

IQSEC3

SJD_23.3

chr12:
244591-244591

T

C

intronic

De novo

-

-

Trost2022 G

IQSEC3

60-1057

chr12:
283924-283924

C

G

exonic

Inherited

nonsynonymous SNV

NM_001170738

c.C3274G

p.Q1092E

20.4

Patowary2019 E

IQSEC3

MSSNG00028-003

chr12:
241320-241320

G

A

intronic

De novo

-

-

Trost2022 G

IQSEC3

2-0129-005

chr12:
243879-243879

A

G

intronic

De novo

-

-

Trost2022 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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