Variant Results

or

Results for "CCDC171"

Variant Events: 59

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

CCDC171

7-0250-003

chr9:
15655835-15655835

G

A

intronic

De novo

-

Yuen2017 G

CCDC171

1-0568-003

chr9:
16136791-16136791

G

A

intergenic

De novo

-

Yuen2017 G

CCDC171

AU031004

chr9:
15867915-15867915

C

G

intronic

De novo

-

Yuen2017 G

CCDC171

AU073006

chr9:
15745580-15745580

T

C

exonic

De novo

synonymous SNV

NM_173550

c.T2622C

p.A874A

7.227

-

Yuen2017 G
Zhou2022 GE

CCDC171

74-0117

chr9:
15930798-15930798

A

G

intronic

De novo

-

Michaelson2012 G

CCDC171

AU1795302

chr9:
15652097-15652097

G

T

intronic

De novo

-

Yuen2017 G

CCDC171

SP0140738

chr9:
15729800-15729800

T

G

intronic

-

Zhou2022 GE

CCDC171

1-0708-003

chr9:
15962200-15962200

T

C

intronic

De novo

-

Yuen2017 G

CCDC171

Lim2017:37418

chr9:
15784693-15784693

G

A

splicing

De novo

splicing

19.64

-

Lim2017 E

CCDC171

7-0215-003

chr9:
15881327-15881337

TTTTTCTCATT

TTT

intronic

De novo

-

Yuen2017 G

CCDC171

1-0673-003

chr9:
16174356-16174356

C

T

intergenic

De novo

-

Yuen2017 G

CCDC171

AU036203

chr9:
15902987-15902987

C

T

intronic

De novo

-

Yuen2017 G

CCDC171

1-0246-004

chr9:
15936551-15936551

C

A

intronic

De novo

-

Yuen2017 G

CCDC171

2-1366-004

chr9:
15648652-15648652

A

T

intronic

De novo

-

Yuen2017 G

CCDC171

AU1764301

chr9:
15805158-15805158

G

A

intronic

De novo

-

Yuen2017 G

CCDC171

AU034904

chr9:
16012263-16012263

A

T

intergenic

De novo

-

Yuen2017 G

CCDC171

AU3765303

chr9:
16185317-16185317

A

C

intergenic

De novo

-

Yuen2017 G

CCDC171

1-0339-003

chr9:
15998310-15998310

T

G

intergenic

De novo

-

Yuen2017 G

CCDC171

iHART2343

chr9:
15623382-15623382

C

T

exonic

Maternal

stopgain

NM_173550

c.C793T

p.R265X

40.0

8.278E-5

Ruzzo2019 G

CCDC171

iHART2516

chr9:
15623349-15623349

C

T

exonic

Maternal

stopgain

NM_173550

c.C760T

p.R254X

40.0

3.0E-4

Ruzzo2019 G

CCDC171

2-1220-003

chr9:
16109822-16109836

GTATATATATATATA

GTATATATATATA

intergenic

De novo

-

Yuen2017 G

CCDC171

iHART1891

chr9:
15724780-15724780

C

T

exonic

Paternal

stopgain

NM_173550

c.C1498T

p.Q500X

42.0

3.312E-5

Ruzzo2019 G

CCDC171

2-0182-003

chr9:
16062570-16062570

A

T

intergenic

De novo

-

Yuen2017 G

CCDC171

2-1356-003

chr9:
16041108-16041108

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC171

AU4186302

chr9:
15891217-15891217

G

T

intronic

De novo

-

Yuen2017 G

CCDC171

AU058103

chr9:
15698759-15698759

C

T

intronic

De novo

-

Yuen2017 G

CCDC171

AU4243302

chr9:
15755438-15755438

A

G

intronic

De novo

-

Yuen2017 G

CCDC171

2-1475-003

chr9:
16134725-16134725

A

G

intergenic

De novo

-

Yuen2017 G

CCDC171

14575.p1

chr9:
15784693-15784693

G

A

splicing

De novo

splicing

19.64

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CCDC171

3-0436-000

chr9:
16055052-16055052

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC171

AU011704

chr9:
15930798-15930798

A

G

intronic

De novo

-

Yuen2017 G

CCDC171

13964.p1

chr9:
15767844-15767844

T

C

intronic

De novo

-

Turner2016 G

CCDC171

13515.p1

chr9:
15941025-15941025

C

T

intronic

De novo

-

Turner2016 G

CCDC171

14370.p1

chr9:
15728490-15728490

A

G

intronic

De novo

-

Turner2016 G

CCDC171

mAGRE5634

chr9:
15846739-15846739

C

T

exonic

Paternal

stopgain

NM_173550

c.C3307T

p.Q1103X

46.0

2.576E-5

Cirnigliaro2023 G

CCDC171

11194.p1

chr9:
16100347-16100347

T

C

intergenic

De novo

-

Turner2016 G

CCDC171

AU3053302

chr9:
15633462-15633462

T

C

intronic

De novo

-

Yuen2017 G

CCDC171

mAGRE1891

chr9:
15724780-15724780

C

T

exonic

Paternal

stopgain

NM_173550

c.C1498T

p.Q500X

42.0

3.312E-5

Cirnigliaro2023 G

CCDC171

13515.p1

chr9:
16105526-16105526

G

A

intergenic

De novo

-

Turner2016 G

CCDC171

mAGRE5091

chr9:
15721823-15721823

A

AGG

exonic

Maternal

frameshift insertion

NM_173550

c.1375_1376insGG

p.R459fs

-

1.666E-5

Cirnigliaro2023 G

CCDC171

mAGRE2343

chr9:
15623382-15623382

C

T

exonic

Maternal

stopgain

NM_173550

c.C793T

p.R265X

40.0

8.278E-5

Cirnigliaro2023 G

CCDC171

mAGRE5522

chr9:
15623349-15623349

C

T

exonic

Maternal

stopgain

NM_173550

c.C760T

p.R254X

40.0

3.0E-4

Cirnigliaro2023 G

CCDC171

mAGRE2516

chr9:
15623349-15623349

C

T

exonic

Maternal

stopgain

NM_173550

c.C760T

p.R254X

40.0

3.0E-4

Cirnigliaro2023 G

CCDC171

mAGRE1025

chr9:
15579017-15579019

CTG

C

exonic

Maternal

frameshift deletion

NM_173550

c.349_350del

p.C117fs

-

3.0E-4

Cirnigliaro2023 G

CCDC171

1-0973-003

chr9:
15730846-15730846

A

G

intronic

De novo

-

Yuen2017 G

CCDC171

SP0101527

chr9:
15723707-15723707

C

T

exonic

De novo

nonsynonymous SNV

NM_173550

c.C1454T

p.T485M

13.79

2.52E-5

Fu2022 E
Zhou2022 GE

CCDC171

AU3861303

chr9:
15934788-15934788

A

G

intronic

De novo

-

Yuen2017 G

CCDC171

1-0393-003

chr9:
16052544-16052544

G

A

intergenic

De novo

-

Yuen2017 G

CCDC171

37418

chr9:
15784693-15784693

G

A

splicing

De novo

splicing

19.64

-

Fu2022 E
Trost2022 G

CCDC171

AU4103301

chr9:
16102283-16102283

G

A

intergenic

De novo

-

Yuen2017 G

CCDC171

2-0244-004

chr9:
15915045-15915045

G

T

intronic

De novo

-

Yuen2017 G

CCDC171

7-0130-003

chr9:
16098731-16098731

C

A

intergenic

De novo

-

Yuen2017 G

CCDC171

1-0744-003

chr9:
16110328-16110328

G

A

intergenic

De novo

-

Yuen2017 G

CCDC171

2-1368-003

chr9:
15636152-15636167

GTATATATATATATAT

GTATATATATATAT

intronic

De novo

-

Yuen2017 G

CCDC171

AU2951303

chr9:
15566461-15566461

G

C

intronic

De novo

-

Yuen2017 G

CCDC171

3-0216-000

chr9:
15599654-15599654

T

C

intronic

De novo

-

Yuen2017 G

CCDC171

1-0806-003

chr9:
15708799-15708799

C

T

intronic

De novo

-

Yuen2017 G

CCDC171

AU1635302

chr9:
16192175-16192175

C

T

intergenic

De novo

-

Yuen2017 G

CCDC171

AU2951302

chr9:
15566461-15566461

G

C

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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