Variant Results

or

Results for "ARL6IP6"

Variant Events: 55

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

ARL6IP6

1-0403-004

chr2:
153932818-153932818

A

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU2988302

chr2:
154018864-154018864

C

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

3-0482-000

chr2:
154019013-154019013

C

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU4234302

chr2:
153591575-153591579

GACTT

G

exonic

Maternal

frameshift deletion

NM_152522

c.523_526del

p.T175fs

-

2.472E-5

Cirnigliaro2023 G

ARL6IP6

1-0481-003

chr2:
153977541-153977541

G

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-0011-004

chr2:
153594417-153594417

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARL6IP6

2-0012-004

chr2:
153601180-153601184

TATCA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARL6IP6

2-1619-003

chr2:
153997617-153997617

G

GGGGAAGT

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1619-003

chr2:
153821035-153821040

TATTGA

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-0210-005

chr2:
153878722-153878722

T

C

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1306-004

chr2:
153703550-153703550

A

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1327-004

chr2:
153997617-153997617

G

GGGGAAGT

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU2863303

chr2:
153735662-153735662

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1379-003

chr2:
153575211-153575211

C

G

exonic

De novo

nonsynonymous SNV

NM_152522

c.C73G

p.R25G

13.07

-

Jiang2013 G
Yuen2016 G

ARL6IP6

1-0255-003

chr2:
154239273-154239273

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ARL6IP6

PN400121

chr2:
153575305-153575305

G

T

exonic

Inherited

nonsynonymous SNV

NM_152522

c.G167T

p.R56L

28.1

0.008

Leblond2019 E

ARL6IP6

AU047703

chr2:
153828309-153828309

A

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU4310301

chr2:
154189031-154189031

C

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

1-0675-003

chr2:
153642780-153642780

T

C

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU4487302

chr2:
153668049-153668049

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1306-003

chr2:
153703550-153703550

A

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

14590.p1

chr2:
153695006-153695006

C

T

intergenic

De novo

-

Turner2016 G

ARL6IP6

1-0203-003

chr2:
153594327-153594327

G

GGGGCACAGCCAAACAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARL6IP6

2-1452-003

chr2:
154317724-154317727

TGTA

T

intergenic

De novo

-

Yuen2016 G

ARL6IP6

AU2123301

chr2:
153589271-153589271

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARL6IP6

1-0507-003

chr2:
153805634-153805634

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ARL6IP6

2-0012-003

chr2:
153601180-153601184

TATCA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARL6IP6

AU4234303

chr2:
153732614-153732614

T

C

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU3451301

chr2:
153839593-153839593

T

C

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU071203

chr2:
153855808-153855808

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU3645301

chr2:
154142013-154142013

A

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1408-003

chr2:
153967534-153967534

C

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU2988303

chr2:
154018864-154018864

C

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU3888302

chr2:
154188258-154188258

C

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1261-003

chr2:
153814847-153814847

T

C

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1290-004

chr2:
154197144-154197144

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU3787303

chr2:
153901227-153901227

C

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

1-0253-004

chr2:
153997617-153997617

G

GGGGAAGT

intergenic

De novo

-

Yuen2017 G

ARL6IP6

2-1169-003

chr2:
153914211-153914211

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

200675351@1082034715

chr2:
153575096-153575096

T

G

UTR5

De novo

-

7.0E-4

Satterstrom2020 E
Trost2022 G

ARL6IP6

5-0017-003

chr2:
153576513-153576524

AAAATGGTAAAC

TTTTTACCCTTTTT

intronic

De novo

-

Trost2022 G

ARL6IP6

AU4069302

chr2:
153764442-153764442

A

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

1-0541-003

chr2:
153576618-153576619

CA

AATGTGC

intronic

De novo

-

Trost2022 G

ARL6IP6

AU3782303

chr2:
153913955-153913955

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

3-0777-000

chr2:
153578267-153578267

C

T

intronic

De novo

-

Trost2022 G

ARL6IP6

5-5237-005

chr2:
153591786-153591786

G

A

intronic

De novo

-

Trost2022 G

ARL6IP6

1-0563-004

chr2:
153576618-153576620

CAA

AATG

intronic

De novo

-

Trost2022 G

ARL6IP6

2-1552-003

chr2:
153576618-153576620

CAA

AATG

intronic

De novo

-

Trost2022 G

ARL6IP6

2-1275-003

chr2:
154061566-154061566

G

A

intergenic

De novo

-

Yuen2017 G

ARL6IP6

7-0100-004

chr2:
154086472-154086472

C

G

intergenic

De novo

-

Yuen2017 G

ARL6IP6

3-0436-000

chr2:
154257745-154257745

C

T

intergenic

De novo

-

Yuen2017 G

ARL6IP6

AU2156303

chr2:
153581461-153581461

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARL6IP6

SP0066412

chr2:
153575243-153575243

C

T

exonic

De novo

synonymous SNV

NM_152522

c.C105T

p.D35D

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

ARL6IP6

2-1180-003

chr2:
153950197-153950197

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ARL6IP6

iHART3295

chr2:
153591575-153591579

GACTT

G

exonic

Maternal

frameshift deletion

NM_152522

c.523_526del

p.T175fs

-

2.472E-5

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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