Variant Results

or

Results for "ANKH"

Variant Events: 40

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

ANKH

5-0140-003

chr5:
15178539-15178539

A

G

intergenic

De novo

-

Yuen2017 G

ANKH

2-1275-003

chr5:
14825286-14825286

C

T

intronic

De novo

-

Yuen2017 G

ANKH

AU4379301

chr5:
14804569-14804569

G

A

intronic

De novo

-

Yuen2017 G

ANKH

12793.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

ANKH

AU0039303

chr5:
14991971-14991971

C

T

intergenic

De novo

-

Yuen2017 G

ANKH

3-0018-000

chr5:
14727737-14727739

ATT

AT

intronic

De novo

-

Yuen2017 G

ANKH

12680.p1

chr5:
14783645-14783645

G

A

intronic

De novo

-

Turner2016 G

ANKH

11857.p1

chr5:
14716965-14716967

CAG

C

intronic

De novo

-

4.988E-5

Iossifov2014 E
Kosmicki2017 E

ANKH

2-1409-003

chr5:
15055949-15055949

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKH

SP0055943

chr5:
14711323-14711323

T

C

exonic

De novo

nonsynonymous SNV

NM_054027

c.A1462G

p.R488G

15.35

-

Fu2022 E

ANKH

1-0263-003

chr5:
14994212-14994212

G

A

intergenic

De novo

-

Yuen2016 G

ANKH

2-0198-005

chr5:
15138036-15138040

GATTA

G

intergenic

De novo

-

Yuen2017 G

ANKH

7-0167-003

chr5:
14947575-14947575

C

T

intergenic

De novo

-

Yuen2017 G

ANKH

1-0582-003

chr5:
15026773-15026773

T

C

intergenic

De novo

-

Yuen2017 G

ANKH

iHART2141

chr5:
14713660-14713660

A

G

exonic

De novo

nonsynonymous SNV

NM_054027

c.T1258C

p.Y420H

18.97

-

Ruzzo2019 G

ANKH

AU076508

chr5:
14847989-14847989

C

T

intronic

De novo

-

Yuen2017 G

ANKH

AU2162302

chr5:
14735989-14735989

C

T

intronic

De novo

-

Yuen2017 G

ANKH

1-0065-004

chr5:
15097213-15097213

A

AC

intergenic

De novo

-

Yuen2017 G

ANKH

AU3808305

chr5:
15026950-15026950

T

C

intergenic

De novo

-

Yuen2017 G

ANKH

DEASD_0284_001

chr5:
14716885-14716885

G

A

exonic

De novo

synonymous SNV

NM_054027

c.C1071T

p.I357I

-

Fu2022 E
Lim2017 E

ANKH

GEA382

chr5:
14713002-14713002

C

T

exonic

De novo

nonsynonymous SNV

NM_054027

c.G1346A

p.C449Y

5.133

-

Fu2022 E

ANKH

1-0497-003

chr5:
14888631-14888631

T

A

intergenic

De novo

-

Yuen2017 G

ANKH

AU3865301

chr5:
15156458-15156458

A

G

intergenic

De novo

-

Yuen2017 G

ANKH

1-0558-003

chr5:
14946570-14946570

C

A

intergenic

De novo

-

Yuen2017 G

ANKH

AU059903

chr5:
14881081-14881081

A

C

intergenic

De novo

-

Yuen2017 G

ANKH

AU3881302

chr5:
14712574-14712574

C

T

intronic

De novo

-

Yuen2017 G

ANKH

1-0445-003

chr5:
14810597-14810597

A

G

intronic

De novo

-

Yuen2017 G

ANKH

2-0297-004

chr5:
14924523-14924541

TTCTTTCTTCCTCTTTCTT

TTCTTTCTT

intergenic

De novo

-

Yuen2017 G

ANKH

2-1223-003

chr5:
15032817-15032817

T

C

intergenic

De novo

-

Yuen2017 G

ANKH

2-1305-003

chr5:
14855442-14855442

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ANKH

1-0439-003

chr5:
14874065-14874065

G

A

intergenic

De novo

-

Yuen2017 G

ANKH

2-1440-003

chr5:
15015462-15015462

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKH

1-0558-003

chr5:
14946656-14946656

A

G

intergenic

De novo

-

Yuen2017 G

ANKH

1-0736-003

chr5:
15044295-15044295

G

T

intergenic

De novo

-

Yuen2017 G

ANKH

2-0198-004

chr5:
15138036-15138040

GATTA

G

intergenic

De novo

-

Yuen2017 G

ANKH

AU3907301

chr5:
14796537-14796537

T

C

intronic

De novo

-

Yuen2017 G

ANKH

1-0563-003

chr5:
15043681-15043681

C

T

intergenic

De novo

-

Yuen2017 G

ANKH

AU4410302

chr5:
15083069-15083069

T

C

intergenic

De novo

-

Yuen2017 G

ANKH

7-0256-003

chr5:
14963914-14963914

C

A

intergenic

De novo

-

Yuen2017 G

ANKH

AU4067303

chr5:
14949456-14949456

G

T

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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