Variant Results

or

Results for "IRX1"

Variant Events: 72

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

IRX1

14015.p1

chr5:
4411932-4411932

G

A

intergenic

De novo

-

Turner2016 G

IRX1

2-1461-003

chr5:
3597126-3597126

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

IRX1

AU3885304

chr5:
4321427-4321427

C

A

intergenic

De novo

-

Yuen2017 G

IRX1

2-0319-003

chr5:
4368098-4368098

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

12568.p1

chr5:
3798319-3798319

C

T

intergenic

De novo

-

Turner2016 G

IRX1

AU3787302

chr5:
3660276-3660276

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

2-1337-003

chr5:
4586404-4586420

TTCTCTCTCTCTCTCTC

TTCTCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

IRX1

AU4264302

chr5:
4150615-4150615

T

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU057405

chr5:
4549197-4549197

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

2-1411-003

chr5:
4017846-4017846

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

2-1487-003

chr5:
4390767-4390767

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

AU4283301

chr5:
3715535-3715535

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

AU3862305

chr5:
4450602-4450602

T

G

intergenic

De novo

-

Yuen2017 G

IRX1

1-0551-004

chr5:
4121771-4121771

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

2-1437-003

chr5:
4119853-4119853

C

CTT

intergenic

De novo

-

Yuen2017 G

IRX1

AU4376301

chr5:
3754206-3754206

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

1-0448-003

chr5:
4530563-4530563

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

2-0158-003

chr5:
4460856-4460856

A

C

intergenic

De novo

-

Yuen2017 G

IRX1

2-1502-003

chr5:
3793182-3793182

G

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU4154303

chr5:
4335364-4335364

T

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU3875301

chr5:
4165808-4165808

C

G

intergenic

De novo

-

Yuen2017 G

IRX1

1-0255-003

chr5:
4188592-4188592

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IRX1

1-0255-003

chr5:
4188594-4188594

C

A

intergenic

De novo

-

Yuen2017 G

IRX1

2-1502-003

chr5:
4261385-4261385

G

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU4186302

chr5:
3862516-3862516

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

AU4429301

chr5:
3983666-3983666

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

2-0068-003

chr5:
3710100-3710100

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

SP0091702

chr5:
3599947-3599947

C

T

exonic

De novo

synonymous SNV

NM_024337

c.C885T

p.R295R

-

Fu2022 E

IRX1

AU1308303

chr5:
4348500-4348500

C

A

intergenic

De novo

-

Yuen2017 G

IRX1

SP0031074

chr5:
3596352-3596352

G

A

exonic

De novo

nonsynonymous SNV

NM_024337

c.G133A

p.A45T

3.936

-

Fu2022 E

IRX1

2-0297-003

chr5:
4618390-4618390

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

SP0005811

chr5:
3600836-3600836

G

GT

intronic

De novo

-

Fu2022 E

IRX1

2-1132-003

chr5:
3955753-3955753

A

AGAC

intergenic

De novo

-

Yuen2017 G

IRX1

SP0059552

chr5:
3600280-3600280

T

C

exonic

De novo

synonymous SNV

NM_024337

c.T1218C

p.L406L

-

Fu2022 E

IRX1

1-0757-003

chr5:
3827894-3827894

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

AU062204

chr5:
3660276-3660276

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0570-003

chr5:
4104913-4104913

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0186-005

chr5:
3740332-3740334

CAG

C

intergenic

De novo

-

Yuen2017 G

IRX1

1-0609-003

chr5:
4514489-4514489

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

1-0507-003

chr5:
4271412-4271412

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IRX1

1-0560-003

chr5:
4261594-4261611

ATGTGTGTGTGTGTGTGT

ATGTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

IRX1

AU3632301

chr5:
3960153-3960153

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0994-003

chr5:
3599264-3599280

GTCTCTCTCTCTCTCTC

GTCTCTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

IRX1

1-0466-003

chr5:
3697241-3697241

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

AU056804

chr5:
4149314-4149314

T

A

intergenic

De novo

-

Yuen2017 G

IRX1

5-0077-003

chr5:
4688364-4688369

TGAACA

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0153-005

chr5:
3804404-3804404

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

2-1169-004

chr5:
3677258-3677258

A

T

intergenic

De novo

-

Yuen2017 G

IRX1

AU1940304

chr5:
3881778-3881778

G

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU046904

chr5:
4595072-4595072

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0054-003

chr5:
4504923-4504923

G

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU4223302

chr5:
4182972-4182972

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

2-1437-004

chr5:
4119853-4119853

C

CTT

intergenic

De novo

-

Yuen2017 G

IRX1

2-1169-004

chr5:
4219652-4219652

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

2-0323-003

chr5:
4691350-4691350

G

C

intergenic

De novo

-

Yuen2017 G

IRX1

AU2022302

chr5:
4530123-4530123

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

2-1297-004

chr5:
4305146-4305146

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

5-0077-004

chr5:
4688364-4688369

TGAACA

T

intergenic

De novo

-

Yuen2017 G

IRX1

3-0065-000

chr5:
4643298-4643298

G

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0604-003

chr5:
4187701-4187701

G

A

intergenic

De novo

-

Yuen2017 G

IRX1

AU3051303

chr5:
3722761-3722761

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

AU3951301

chr5:
4231957-4231957

G

C

intergenic

De novo

-

Yuen2017 G

IRX1

2-1350-003

chr5:
3931988-3931988

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

AU4069302

chr5:
3977408-3977408

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

2-1426-003

chr5:
4134857-4134857

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

AU066818

chr5:
4696108-4696108

C

T

intergenic

De novo

-

Yuen2017 G

IRX1

1-0197-003

chr5:
4107087-4107087

T

C

intergenic

De novo

-

Yuen2017 G

IRX1

AU4056301

chr5:
4721324-4721324

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

1-0218-004

chr5:
4610336-4610336

A

G

intergenic

De novo

-

Yuen2017 G

IRX1

2-1153-003

chr5:
4098175-4098175

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IRX1

2-1184-003

chr5:
3874283-3874283

G

C

intergenic

De novo

-

Yuen2017 G

IRX1

AU3716301

chr5:
4232423-4232423

T

G

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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