Variant Results

or

Results for "CCDC178"

Variant Events: 31

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

CCDC178

1-0153-005

chr18:
31100255-31100255

G

T

intergenic

De novo

-

Yuen2017 G

CCDC178

7-0024-003

chr18:
30689844-30689845

AT

A

intronic

De novo

-

Yuen2017 G

CCDC178

1-0139-005

chr18:
30624612-30624612

C

T

intronic

De novo

-

Yuen2017 G

CCDC178

1-0380-003

chr18:
30665075-30665075

T

C

intronic

De novo

-

Yuen2017 G

CCDC178

1-0384-003

chr18:
30691758-30691758

T

C

intronic

De novo

-

Yuen2017 G

CCDC178

1-0289-004

chr18:
30774942-30774942

G

A

intronic

De novo

-

Yuen2017 G

CCDC178

1-0158-012

chr18:
30738959-30738959

C

T

intronic

De novo

-

Yuen2017 G

CCDC178

1-0339-003

chr18:
30540445-30540445

G

A

intronic

De novo

-

Yuen2017 G

CCDC178

5-0055-003

chr18:
30543006-30543007

CA

C

intronic

De novo

-

Yuen2017 G

CCDC178

1-0303-004

chr18:
30773391-30773391

T

A

intronic

De novo

-

Yuen2017 G

CCDC178

2-0063-005

chr18:
30931012-30931012

C

A

intronic

De novo

-

Yuen2017 G

CCDC178

AU3729301

chr18:
30641830-30641834

GAAAA

GAAAAA

intronic

De novo

-

Yuen2017 G

CCDC178

1-0113-003

chr18:
30857129-30857130

TC

T

intronic

De novo

-

Yuen2016 G

CCDC178

A11

chr18:
30525688-30525688

G

T

intronic

De novo

-

Wu2018 G

CCDC178

AU4487302

chr18:
30664494-30664494

C

T

intronic

De novo

-

Yuen2017 G

CCDC178

2-1430-003

chr18:
30554678-30554678

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CCDC178

AU4228301

chr18:
30863054-30863054

T

C

intronic

De novo

-

Yuen2017 G

CCDC178

11089.p1

chr18:
31046601-31046601

C

T

intergenic

De novo

-

Turner2016 G

CCDC178

2-1323-003

chr18:
30712390-30712390

C

T

intronic

De novo

-

Yuen2017 G

CCDC178

AU1725306

chr18:
30779641-30779641

T

A

intronic

De novo

-

Yuen2017 G

CCDC178

60-2027

chr18:
31100191-31100191

A

G

intergenic

De novo

-

Michaelson2012 G

CCDC178

SP0119770

chr18:
30825292-30825292

G

A

exonic

De novo

nonsynonymous SNV

NM_001105528
NM_001308126
NM_198995

c.C1510T
c.C1510T
c.C1510T

p.R504C
p.R504C
p.R504C

7.217

2.527E-5

Fu2022 E

CCDC178

AU006804

chr18:
30642057-30642057

A

T

intronic

De novo

-

Yuen2017 G

CCDC178

AU072904

chr18:
31089322-31089322

A

T

intergenic

De novo

-

Yuen2017 G

CCDC178

iHART2967

chr18:
30554568-30554570

CCT

C

exonic

Paternal

frameshift deletion

NM_001105528
NM_198995
NM_001308126

c.2464_2465del
c.2350_2351del
c.2536_2537del

p.R822fs
p.R784fs
p.R846fs

-

9.094E-5

Ruzzo2019 G

CCDC178

2-1398-004

chr18:
31089391-31089391

A

T

intergenic

De novo

-

Yuen2017 G

CCDC178

5-0088-003

chr18:
30756753-30756753

T

A

intronic

De novo

-

Yuen2017 G

CCDC178

AU3399302

chr18:
31039262-31039262

T

C

intergenic

De novo

-

Yuen2017 G

CCDC178

AU1795303

chr18:
30609169-30609169

T

G

intronic

De novo

-

Yuen2017 G

CCDC178

AU3839303

chr18:
30728068-30728068

A

T

intronic

De novo

-

Yuen2017 G

CCDC178

AU011021

chr18:
31008317-31008317

C

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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