Variant Results

or

Results for "ANKRD7"

Variant Events: 61

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

ANKRD7

A2

chr7:
119207046-119207046

A

G

intergenic

De novo

-

Wu2018 G

ANKRD7

AU4433301

chr7:
118823160-118823160

T

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU051504

chr7:
118272144-118272144

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-0036-003

chr7:
118661572-118661572

C

T

intergenic

De novo

-

Yuen2016 G

ANKRD7

mAGRE4880

chr7:
117874747-117874766

ATTAACAGGCAGTACAGTGT

A

exonic

Paternal

nonframeshift deletion

NM_019644

c.295_306del

p.99_102del

-

3.415E-5

Cirnigliaro2023 G

ANKRD7

1-0593-003

chr7:
119188199-119188199

G

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU066404

chr7:
117917499-117917520

TTTTGTTTGTTTGTTTGTTTGT

TTTTGTTTGTTTGTTTGT

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU4336301

chr7:
118877609-118877609

C

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0019-004

chr7:
117965061-117965061

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU4283301

chr7:
118381119-118381119

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

mAGRE5378

chr7:
117876958-117876958

G

GT

exonic

Paternal

frameshift insertion

NM_019644

c.691dupT

p.M230fs

-

6.631E-5

Cirnigliaro2023 G

ANKRD7

2-1384-003

chr7:
118710437-118710437

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0914-003

chr7:
118951044-118951044

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU3124304

chr7:
118476650-118476650

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-0198-005

chr7:
119085831-119085831

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1220-003

chr7:
119156019-119156019

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0495-003

chr7:
118435941-118435941

T

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1146-003

chr7:
118503906-118503906

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0441-003

chr7:
118769128-118769128

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD7

AU2975302

chr7:
118232817-118232817

G

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU2495302

chr7:
119146914-119146914

G

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1408-004

chr7:
119217630-119217630

T

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU2023302

chr7:
118071416-118071416

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-0016-003

chr7:
118661572-118661572

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU3729303

chr7:
118857655-118857655

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU011704

chr7:
118649230-118649230

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0443-003

chr7:
118799679-118799679

A

T

intergenic

De novo

-

Yuen2016 G

ANKRD7

7-0403-003

chr7:
117870082-117870082

C

A

intronic

De novo

-

Trost2022 G

ANKRD7

2-1097-003

chr7:
117871990-117871990

T

C

intronic

De novo

-

Trost2022 G

ANKRD7

2-1066-004

chr7:
117865414-117865419

CGCCTG

C

intronic

De novo

-

Trost2022 G

ANKRD7

1-0912-003

chr7:
119256516-119256516

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1066-004

chr7:
117865422-117865431

ATCCCAGCTA

C

intronic

De novo

-

Trost2022 G

ANKRD7

2-0272-004

chr7:
119218043-119218043

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-0198-004

chr7:
119085831-119085831

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0652-004

chr7:
118366491-118366491

G

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU4410302

chr7:
119101517-119101517

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1322-003

chr7:
118449784-118449784

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

13942.p1

chr7:
117913687-117913687

G

T

intergenic

De novo

-

Turner2016 G

ANKRD7

1-0546-003

chr7:
118704059-118704059

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1644-004

chr7:
118722650-118722650

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

74-0117

chr7:
118649230-118649230

C

T

intergenic

De novo

-

Michaelson2012 G

ANKRD7

AU015903

chr7:
118989045-118989045

C

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-0198-003

chr7:
119085831-119085831

G

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0560-003

chr7:
118603819-118603819

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-1325-003

chr7:
118077826-118077826

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD7

AU072505

chr7:
118302195-118302195

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU4197302

chr7:
119118250-119118250

T

A

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0285-003

chr7:
118267216-118267216

G

T

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0413-003

chr7:
118112365-118112365

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD7

1-0606-003

chr7:
117899210-117899210

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

7-0103-003

chr7:
119045702-119045709

CTTTTTTT

CTTTTTT

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU4092302

chr7:
118712196-118712196

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0045-004

chr7:
118386099-118386099

T

C

intergenic

De novo

-

Yuen2017 G

ANKRD7

2-0135-004

chr7:
118757772-118757772

T

TAA

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0278-003

chr7:
118396267-118396267

C

T

intergenic

De novo

-

Yuen2016 G

ANKRD7

1-0522-003

chr7:
118020905-118020905

C

T

intergenic

De novo

-

Yuen2016 G

ANKRD7

1-0065-004

chr7:
118598076-118598076

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

AU2117302

chr7:
118148483-118148483

A

G

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0107-003

chr7:
118038109-118038109

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ANKRD7

AU4423303

chr7:
118060219-118060228

CATATATATA

CATATATATATA

intergenic

De novo

-

Yuen2017 G

ANKRD7

1-0330-004

chr7:
117865558-117865558

T

A

intronic

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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