Variant Results

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Results for "CCDC183"

Variant Events: 16

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

CCDC183

REACH000767

chr9:
139697272-139697272

G

A

intronic

De novo

-

Trost2022 G

CCDC183

7-0411-003

chr9:
139697231-139697231

A

G

exonic

De novo

nonsynonymous SNV

NM_001039374

c.A659G

p.E220G

14.0

Trost2022 G

CCDC183

7-0411-003

chr9:
139697268-139697268

C

T

intronic

De novo

-

Trost2022 G

CCDC183

mAGRE1252

chr9:
139702057-139702057

A

ACGTC

exonic

Paternal

frameshift insertion

NM_001039374

c.1520_1521insCGTC

p.Y507fs

-

Cirnigliaro2023 G

CCDC183

AU3997302

chr9:
139700606-139700606

G

A

exonic

Paternal

stopgain

NM_001039374

c.G1025A

p.W342X

28.8

Cirnigliaro2023 G

CCDC183

AU3997301

chr9:
139700606-139700606

G

A

exonic

Paternal

stopgain

NM_001039374

c.G1025A

p.W342X

28.8

Cirnigliaro2023 G

CCDC183

mAGRE4869

chr9:
139697123-139697124

CA

C

exonic

Maternal

frameshift deletion

NM_001039374

c.552delA

p.A184fs

-

Cirnigliaro2023 G

CCDC183

mAGRE3032

chr9:
139694568-139694568

G

GCC

exonic

Paternal

frameshift insertion

NM_001039374

c.385_386insCC

p.D129fs

-

-

Cirnigliaro2023 G

CCDC183

AU4032307

chr9:
139693566-139693567

CA

C

exonic

Paternal

frameshift deletion

NM_001039374

c.84delA

p.A28fs

-

-

Cirnigliaro2023 G

CCDC183

mAGRE2792

chr9:
139702057-139702057

A

ACGTC

exonic

Paternal

frameshift insertion

NM_001039374

c.1520_1521insCGTC

p.Y507fs

-

Cirnigliaro2023 G

CCDC183

11337.p1

chr9:
139699840-139699840

G

A

exonic

De novo

nonsynonymous SNV

NM_001039374

c.G879A

p.M293I

11.76

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

CCDC183

AU4056302

chr9:
139694397-139694397

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CCDC183

SSC00190

chr9:
139699840-139699840

G

A

exonic

De novo

nonsynonymous SNV

NM_001039374

c.G879A

p.M293I

11.76

-

Fu2022 E
Lim2017 E
Trost2022 G

CCDC183

2-1370-003

chr9:
139697272-139697272

G

A

intronic

De novo

-

Yuen2017 G

CCDC183

iHART3032

chr9:
139694568-139694568

G

GCC

exonic

Paternal

frameshift insertion

NM_001039374

c.385_386insCC

p.D129fs

-

-

Ruzzo2019 G

CCDC183

iHART3261

chr9:
139693566-139693567

CA

C

exonic

Paternal

frameshift deletion

NM_001039374

c.84delA

p.A28fs

-

-

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
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