Variant Results

or

or

Results for "AIG1"

Variant Events: 32

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

AIG1

2-1107-003

chr6:
143641983-143641983

A

G

intronic

De novo

-

-

Trost2022 G

AIG1

5-5186-003

chr6:
143629824-143629824

A

G

intronic

De novo

-

-

Trost2022 G

AIG1

AU2216201

chr6:
143641236-143641236

C

T

intronic

De novo

-

-

Trost2022 G

AIG1

1-1058-003

chr6:
143602108-143602108

A

G

intronic

De novo

-

-

Trost2022 G

AIG1

5-5231-003

chr6:
143607087-143607088

AT

A

intronic

De novo

-

-

Trost2022 G

AIG1

AU072504

chr6:
143543533-143543533

T

TTTG

intronic

De novo

-

-

Trost2022 G

AIG1

1-1124-003

chr6:
143566953-143566953

A

C

intronic

De novo

-

-

Trost2022 G

AIG1

1-0912-003

chr6:
143687418-143687418

A

T

intergenic

De novo

-

-

Yuen2017 G

AIG1

2-1398-004

chr6:
143529781-143529781

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

AU4283301

chr6:
143665592-143665592

G

T

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

7-0223-003

chr6:
143450519-143450519

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

2-1427-003

chr6:
143622818-143622818

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

12498.p1

chr6:
143548149-143548149

A

T

intronic

De novo

-

-

Turner2016 G

AIG1

AU2427301

chr6:
143452594-143452594

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

AU2458303

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

AU030103

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

1-0375-003

chr6:
143467653-143467668

TTCTCTCTCTCTCTCT

TTCTCTCTCTCTCT

intronic

De novo

-

-

Yuen2017 G

AIG1

1-0329-004

chr6:
143714882-143714882

T

TC

intergenic

De novo

-

-

Yuen2017 G

AIG1

2-1173-003

chr6:
143696496-143696496

A

T

intergenic

De novo

-

-

Yuen2017 G

AIG1

AU1764301

chr6:
143650122-143650122

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

2-0088-003

chr6:
143504623-143504623

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

2-1322-004

chr6:
143612246-143612246

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

2-1169-004

chr6:
143715857-143715857

C

T

intergenic

De novo

-

-

Yuen2017 G

AIG1

AU3881301

chr6:
143738628-143738628

A

G

intergenic

De novo

-

-

Yuen2017 G

AIG1

1-0075-003

chr6:
143709041-143709041

A

T

intergenic

De novo

-

-

Yuen2017 G

AIG1

1-1034-003

chr6:
143388844-143388844

G

T

intronic

De novo

-

-

Trost2022 G

AIG1

3-0477-000

chr6:
143404993-143404993

G

T

intronic

De novo

-

-

Trost2022 G

AIG1

2-1343-003

chr6:
143713146-143713146

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

AIG1

AU030104

chr6:
143626342-143626348

GTTTTTT

GTTTTTTT

intronic

De novo

-

-

Yuen2017 G

AIG1

SP0047609

chr6:
143660873-143660873

G

C

UTR3

De novo

-

-

Fu2022 E

AIG1

1-0206-005

chr6:
143561705-143561705

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AIG1

AU2485305

chr6:
143614304-143614304

A

C

intronic

De novo

-

-

Trost2022 G
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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