Variant Results

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Results for "IQSEC2"

Variant Events: 16

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

IQSEC2

ASP023

chrX:
53268427-53268427

C

T

exonic

De novo

nonsynonymous SNV

NM_001111125
NM_015075

c.G3065A
c.G2450A

p.R1022H
p.R817H

30.0

Satterstrom2020 E

IQSEC2

3E469

chrX:
53279480-53279480

C

T

exonic

De novo

nonsynonymous SNV

NM_001111125
NM_015075

c.G2278A
c.G1663A

p.G760S
p.G555S

24.7

-

Satterstrom2020 E

IQSEC2

Mahjani2021:52

chrX:
53284038-53284038

G

A

exonic

nonsynonymous SNV

NM_001111125
NM_015075

c.C1075T
c.C460T

p.R359C
p.R154C

25.4

-

Mahjani2021 E

IQSEC2

80001102558

chrX:
53268477-53268477

C

T

splicing

De novo

splicing

27.0

-

Satterstrom2020 E

IQSEC2

2-0240-004

chrX:
53372919-53372919

A

AG

intergenic

De novo

-

-

Yuen2017 G

IQSEC2

Y9P8U

chrX:
53279669-53279669

C

T

exonic

Unknown

nonsynonymous SNV

NM_001111125
NM_015075

c.G2089A
c.G1474A

p.E697K
p.E492K

19.69

-

Stessman2017 T

IQSEC2

Ishay2021:16

chrX:
53264327-53264327

G

A

exonic

Maternal

nonsynonymous SNV

NM_001111125

c.C3541T

p.P1181S

3.285

Ishay2021 E

IQSEC2

AU076603

chrX:
53283884-53283885

GG

G

exonic

Unknown

frameshift deletion

NM_001111125
NM_015075

c.1228delC
c.613delC

p.P410fs
p.P205fs

-

-

Zhou2019 T

IQSEC2

G01-GEA-237-HI

chrX:
53270998-53270998

G

A

exonic

De novo

nonsynonymous SNV

NM_001111125
NM_015075

c.C2983T
c.C2368T

p.R995W
p.R790W

21.8

-

Satterstrom2020 E

IQSEC2

JASD_Fam0156

chrX:
53268427-53268427

C

T

exonic

De novo

nonsynonymous SNV

NM_001111125
NM_015075

c.G3065A
c.G2450A

p.R1022H
p.R817H

30.0

Takata2018 E

IQSEC2

Cherot2017:3

chrX:
53272549-53272549

G

A

exonic

Unknown

stopgain

NM_001111125
NM_015075

c.C2854T
c.C2239T

p.Q952X
p.Q747X

40.0

-

Cherot2017 E

IQSEC2

Hu2022:39

chrX:
53285098-53285098

G

A

exonic

Unknown

nonsynonymous SNV

NM_001111125
NM_015075

c.C883T
c.C268T

p.R295W
p.R90W

14.37

-

Hu2022 T

IQSEC2

Mahjani2021:140

chrX:
53268477-53268477

C

T

splicing

splicing

27.0

-

Mahjani2021 E

IQSEC2

13393.p1

chrX:
53290879-53290879

C

T

intronic

De novo

-

-

Turner2016 G

IQSEC2

Krgovic2022:027448

chrX:
53277315-53277315

G

A

exonic

De novo

stopgain

NM_001111125
NM_015075

c.C2563T
c.C1948T

p.R855X
p.R650X

39.0

-

Krgovic2022 E

IQSEC2

MAC1179

chrX:
53276183-53276183

A

G

exonic

De novo

nonsynonymous SNV

NM_001111125
NM_015075

c.T2717C
c.T2102C

p.M906T
p.M701T

17.46

-

Satterstrom2020 E

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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