Variant Results

or

Results for "CCDC18"

Variant Events: 11

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

CCDC18

1-0453-003

chr1:
93738999-93739001

GAA

GA

intronic

De novo

-

Yuen2017 G

CCDC18

236-15-DR

chr1:
93719993-93719993

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CCDC18

AU3768302

chr1:
93701916-93701917

CA

C

exonic

Paternal

frameshift deletion

NM_001306076
NM_206886

c.2570delA
c.2573delA

p.Q857fs
p.Q858fs

-

Cirnigliaro2023 G

CCDC18

SP0064867

chr1:
93730395-93730395

G

C

exonic

De novo

nonsynonymous SNV

NM_001306076
NM_206886

c.G3819C
c.G3822C

p.L1273F
p.L1274F

17.68

-

Fu2022 E
Zhou2022 GE

CCDC18

AU0636303

chr1:
93745094-93745094

G

A

downstream

De novo

-

Yuen2017 G

CCDC18

10C102957

chr1:
93667486-93667486

G

A

exonic

De novo

nonsynonymous SNV

NM_001306076
NM_206886

c.G736A
c.G736A

p.E246K
p.E246K

26.8

6.683E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CCDC18

AU4237301

chr1:
93748935-93748935

A

C

intergenic

De novo

-

Yuen2017 G

CCDC18

3-0140-000

chr1:
93677438-93677438

G

A

intronic

De novo

-

Yuen2017 G

CCDC18

1-0184-003

chr1:
93748124-93748124

A

T

intergenic

De novo

-

Yuen2017 G

CCDC18

AU4237302

chr1:
93748935-93748935

A

C

intergenic

De novo

-

Yuen2017 G

CCDC18

iHART3177

chr1:
93701916-93701917

CA

C

exonic

Paternal

frameshift deletion

NM_001306076
NM_206886

c.2570delA
c.2573delA

p.Q857fs
p.Q858fs

-

Ruzzo2019 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
	More