Variant Results

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Results for "CCDC175"

Variant Events: 13

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

CCDC175

DEASD_3001_001

chr14:
60010154-60010154

T

C

exonic

De novo

synonymous SNV

NM_001164399

c.A1191G

p.T397T

-

-

Fu2022 E

CCDC175

2-1359-003

chr14:
60054201-60054201

C

T

intergenic

De novo

-

-

Yuen2017 G

CCDC175

iHART3265

chr14:
60011900-60011900

T

A

exonic

Maternal

stopgain

NM_001164399

c.A1153T

p.K385X

18.1

-

Ruzzo2019 G

CCDC175

iHART2618

chr14:
59998585-59998589

TCTTC

T

exonic

Paternal

frameshift deletion

NM_001164399

c.1663_1666del

p.E555fs

-

-

Ruzzo2019 G

CCDC175

mAGRE4891

chr14:
60043477-60043477

C

T

exonic

Paternal

stopgain

NM_001164399

c.G17A

p.W6X

19.74

Cirnigliaro2023 G

CCDC175

mAGRE4889

chr14:
60043477-60043477

C

T

exonic

Paternal

stopgain

NM_001164399

c.G17A

p.W6X

19.74

Cirnigliaro2023 G

CCDC175

mAGRE5282

chr14:
60011900-60011900

T

A

exonic

Maternal

stopgain

NM_001164399

c.A1153T

p.K385X

18.1

-

Cirnigliaro2023 G

CCDC175

2-0202-003

chr14:
59999387-59999387

C

CAGCT

intronic

De novo

-

-

Yuen2017 G

CCDC175

AU4033305

chr14:
60011900-60011900

T

A

exonic

Maternal

stopgain

NM_001164399

c.A1153T

p.K385X

18.1

-

Cirnigliaro2023 G

CCDC175

mAGRE2618

chr14:
59998585-59998589

TCTTC

T

exonic

Paternal

frameshift deletion

NM_001164399

c.1663_1666del

p.E555fs

-

-

Cirnigliaro2023 G

CCDC175

AU3729303

chr14:
60060809-60060809

A

G

intergenic

De novo

-

-

Yuen2017 G

CCDC175

20-0427226-19

chr14:
60027908-60027908

G

A

exonic

De novo

synonymous SNV

NM_001164399

c.C882T

p.H294H

-

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CCDC175

7-0249-003

chr14:
59978467-59978467

G

T

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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