Variant Results

or

or

Results for "ALX1"

Variant Events: 30

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

ALX1

Li2017:16185

chr12:
85677521-85677521

G

A

exonic

Unknown

nonsynonymous SNV

NM_006982

c.G398A

p.R133Q

33.0

Li2017 T

ALX1

2-1382-003

chr12:
85887499-85887499

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ALX1

AU3263302

chr12:
85680305-85680305

G

A

intronic

De novo

-

-

Yuen2017 G

ALX1

AU3858303

chr12:
86057808-86057808

C

G

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU4233301

chr12:
85844848-85844848

G

A

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU2140305

chr12:
86073129-86073129

G

A

intergenic

De novo

-

-

Yuen2017 G

ALX1

1-0191-003

chr12:
86129177-86129177

G

T

intergenic

De novo

-

-

Yuen2017 G

ALX1

1-0638-003

chr12:
85963662-85963662

G

A

intergenic

De novo

-

-

Yuen2017 G

ALX1

A17

chr12:
85675539-85675539

T

C

intronic

De novo

-

-

Wu2018 G

ALX1

1-0568-003

chr12:
86167602-86167605

CATT

C

intergenic

De novo

-

-

Yuen2017 G

ALX1

7-0024-005

chr12:
85925757-85925757

T

A

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU1725306

chr12:
86173322-86173322

G

A

intergenic

De novo

-

-

Yuen2017 G

ALX1

1-0395-004

chr12:
86172452-86172452

T

A

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU024606

chr12:
85878623-85878623

T

G

intergenic

De novo

-

-

Yuen2017 G

ALX1

SP0047850

chr12:
85677423-85677423

C

T

exonic

De novo

synonymous SNV

NM_006982

c.C300T

p.N100N

-

-

Fu2022 E

ALX1

7-0127-003

chr12:
86192939-86192939

T

C

intergenic

De novo

-

-

Yuen2017 G

ALX1

2-1299-003

chr12:
86011916-86011916

T

G

intergenic

De novo

-

-

Yuen2017 G

ALX1

5-0095-003

chr12:
85947459-85947473

CTATATATATATATA

CTATATATATATA

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU2000302

chr12:
85720986-85720986

C

T

intergenic

De novo

-

-

Yuen2017 G

ALX1

2-0208-003

chr12:
86088017-86088017

A

G

intergenic

De novo

-

-

Yuen2017 G

ALX1

5-0061-003

chr12:
85806559-85806559

C

T

intergenic

De novo

-

-

Yuen2017 G

ALX1

SP0026759

chr12:
85674110-85674110

C

T

exonic

De novo

nonsynonymous SNV

NM_006982

c.C71T

p.A24V

17.58

-

Feliciano2019 E
Fu2022 E

ALX1

1-0898-003

chr12:
85705865-85705865

C

T

intergenic

De novo

-

-

Yuen2017 G

ALX1

7-0251-003

chr12:
86135528-86135528

A

G

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU043804

chr12:
86085227-86085227

T

C

intergenic

De novo

-

-

Yuen2017 G

ALX1

7-0219-003

chr12:
85864439-85864439

T

C

intergenic

De novo

-

-

Yuen2017 G

ALX1

1-0025-004

chr12:
85760478-85760478

A

G

intergenic

De novo

-

-

Yuen2017 G

ALX1

AU4197301

chr12:
85887787-85887787

G

C

intergenic

De novo

-

-

Yuen2017 G

ALX1

1-0010-005

chr12:
86114560-86114560

A

ATG

intergenic

De novo

-

-

Yuen2017 G

ALX1

1-0640-003

chr12:
85819169-85819169

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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