Variant Results

or

Results for "XIRP2"

Variant Events: 61

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

XIRP2

DEASD_0287_001

chr2:
168103957-168103957

C

T

exonic

De novo

nonsynonymous SNV

NM_001199144
NM_152381

c.C5389T
c.C6055T

p.P1797S
p.P2019S

1.936

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

XIRP2

3-0434-000

chr2:
168063054-168063054

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

XIRP2

2-0116-005

chr2:
168665156-168665158

GAT

G

intergenic

De novo

-

Yuen2017 G

XIRP2

2-0122-004

chr2:
167998928-167998928

T

C

intronic

De novo

-

Yuen2017 G

XIRP2

01C05903

chr2:
168104951-168104951

C

T

exonic

De novo

nonsynonymous SNV

NM_001199144
NM_152381

c.C6383T
c.C7049T

p.P2128L
p.P2350L

15.37

-

Fu2022 E
Satterstrom2020 E

XIRP2

2-1207-003

chr2:
168439505-168439505

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

XIRP2

AU3730301

chr2:
167970834-167970840

CTTTTTT

CTTT

intronic

De novo

-

Yuen2017 G

XIRP2

AU4186302

chr2:
168638864-168638864

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

AU4173301

chr2:
168118333-168118333

C

G

intergenic

De novo

-

Yuen2017 G

XIRP2

2-1185-003

chr2:
167999593-167999593

T

G

intronic

De novo

-

Yuen2017 G

XIRP2

2-1417-003

chr2:
168452669-168452669

A

AG

intergenic

De novo

-

Yuen2017 G

XIRP2

AU3646301

chr2:
168559207-168559207

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

iHART3297

chr2:
168102211-168102211

C

T

exonic

Maternal

stopgain

NM_001199144
NM_152381

c.C3643T
c.C4309T

p.R1215X
p.R1437X

42.0

6.0E-4

Ruzzo2019 G

XIRP2

iHART1611

chr2:
168101944-168101944

C

T

exonic

Maternal

stopgain

NM_001199144
NM_152381

c.C3376T
c.C4042T

p.R1126X
p.R1348X

42.0

3.0E-4

Ruzzo2019 G

XIRP2

2-1239-003

chr2:
168181962-168181962

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

XIRP2

2-1371-003

chr2:
168619273-168619273

A

AAT

intergenic

De novo

-

Yuen2016 G

XIRP2

AU3777301

chr2:
168595553-168595553

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

2-0022-005

chr2:
168457061-168457067

TCCCCCC

TCCCCCCC

intergenic

De novo

-

Yuen2017 G

XIRP2

iHART2292

chr2:
168103313-168103314

GT

G

exonic

Maternal

frameshift deletion

NM_001199144
NM_152381

c.4746delT
c.5412delT

p.S1582fs
p.S1804fs

-

Ruzzo2019 G

XIRP2

5903

chr2:
168100230-168100230

A

C

exonic

De novo

synonymous SNV

NM_001199144
NM_152381

c.A1662C
c.A2328C

p.T554T
p.T776T

-

8.315E-6

Fu2022 E

XIRP2

iHART1790

chr2:
168102970-168102974

ACTAT

A

exonic

Maternal

frameshift deletion

NM_001199144
NM_152381

c.4403_4406del
c.5069_5072del

p.T1468fs
p.T1690fs

-

8.314E-6

Ruzzo2019 G

XIRP2

1-0367-003

chr2:
168423006-168423025

TATAATAATAATAATAATAA

TATAATAATAATAATAA

intergenic

De novo

-

Yuen2017 G

XIRP2

5-0125-003

chr2:
168658478-168658478

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0547-003

chr2:
168200057-168200057

T

A

intergenic

De novo

-

Yuen2017 G

XIRP2

2-0297-003

chr2:
168658679-168658679

G

T

intergenic

De novo

-

Yuen2017 G

XIRP2

2-1381-003

chr2:
168476839-168476839

C

T

intergenic

De novo

-

Yuen2017 G

XIRP2

AU4153301

chr2:
167923834-167923834

G

A

intronic

De novo

-

Yuen2017 G

XIRP2

SMHC01663d000

chr2:
168115814-168115817

GAAC

G

exonic

De novo

nonframeshift deletion

NM_001199145
NM_001079810
NM_001199143

c.2093_2095del
c.2759_2761del
c.2858_2860del

p.698_699del
p.920_921del
p.953_954del

-

Yuan2023 E

XIRP2

2-1168-003

chr2:
168165917-168165917

G

T

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0303-004

chr2:
167886486-167886486

A

C

intronic

De novo

-

Yuen2017 G

XIRP2

2-0223-003

chr2:
168665158-168665158

T

G

intergenic

De novo

-

Yuen2017 G

XIRP2

AU072505

chr2:
168040981-168040981

C

T

intronic

De novo

-

Yuen2017 G

XIRP2

AU076705

chr2:
168509864-168509864

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

AU4479301

chr2:
168322270-168322270

C

T

intergenic

De novo

-

Yuen2017 G

XIRP2

AU4479301

chr2:
168325297-168325297

C

T

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0674-003

chr2:
167943995-167943995

C

T

intronic

De novo

-

Yuen2017 G

XIRP2

AU4308302

chr2:
168106680-168106680

C

A

exonic

De novo

nonsynonymous SNV

NM_001199144
NM_152381

c.C8112A
c.C8778A

p.F2704L
p.F2926L

0.232

-

Yuen2017 G

XIRP2

1-0274-004

chr2:
168207860-168207860

G

GTTTT

intergenic

De novo

-

Yuen2017 G

XIRP2

3-0134-000

chr2:
168113853-168113853

A

C

intronic

De novo

-

Yuen2017 G

XIRP2

SP0047902

chr2:
167760096-167760096

T

A

exonic

De novo

nonsynonymous SNV

NM_001079810
NM_001199143
NM_152381

c.T104A
c.T104A
c.T104A

p.I35N
p.I35N
p.I35N

11.43

-

Fu2022 E

XIRP2

AU1995302

chr2:
168286567-168286567

T

C

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0107-003

chr2:
168127170-168127170

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

XIRP2

2-1143-003

chr2:
167937278-167937278

A

G

intronic

De novo

-

Yuen2017 G

XIRP2

1-0627-005

chr2:
168292443-168292443

T

A

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0359-003

chr2:
168557010-168557010

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

AU4079302

chr2:
168330105-168330105

C

T

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0459-004

chr2:
168260183-168260183

T

C

intergenic

De novo

-

Yuen2017 G

XIRP2

1-1004-003

chr2:
167820288-167820288

C

T

intronic

De novo

-

Yuen2017 G

XIRP2

AU055004

chr2:
167885912-167885912

T

A

intronic

De novo

-

Yuen2017 G

XIRP2

2-1605-003

chr2:
167759046-167759046

G

A

intronic

De novo

-

Yuen2017 G

XIRP2

AU1635302

chr2:
167745838-167745838

G

A

intronic

De novo

-

Yuen2017 G

XIRP2

1-0445-003

chr2:
168637977-168637977

A

G

intergenic

De novo

-

Yuen2017 G

XIRP2

2-1205-003

chr2:
168123022-168123037

TTGTGTGTGTGTGTGT

TTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0274-003

chr2:
168207860-168207860

G

GTTTT

intergenic

De novo

-

Yuen2017 G

XIRP2

2-0219-004

chr2:
168560479-168560479

C

CAGGA

intergenic

De novo

-

Yuen2017 G

XIRP2

1-0673-003

chr2:
168145249-168145249

T

A

intergenic

De novo

-

Yuen2017 G

XIRP2

5-0017-004

chr2:
167853895-167853895

C

T

intronic

De novo

-

Yuen2017 G

XIRP2

AU4032305

chr2:
168115348-168115348

A

G

exonic

De novo

nonsynonymous SNV

NM_001199145
NM_001079810
NM_001199143

c.A1626G
c.A2292G
c.A2391G

p.I542M
p.I764M
p.I797M

14.44

-

Yuen2017 G

XIRP2

3-0325-000

chr2:
168103257-168103257

T

C

exonic

De novo

synonymous SNV

NM_001199144
NM_152381

c.T4689C
c.T5355C

p.V1563V
p.V1785V

-

Tammimies2015 E

XIRP2

1-0898-003

chr2:
167878547-167878547

T

G

intronic

De novo

-

Yuen2017 G

XIRP2

1-0368-004

chr2:
168238681-168238681

G

A

intergenic

De novo

-

Yuen2017 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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