Variant Results

or

or

Results for "CDC73"

Variant Events: 24

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

CDC73

2-1567-004

chr1:
193118909-193118909

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

2-1303-003

chr1:
193189961-193189961

T

C

intronic

De novo

-

-

Yuen2017 G

CDC73

AU056604

chr1:
193243194-193243197

TAAA

TAA

intergenic

De novo

-

-

Yuen2017 G

CDC73

SP0000180

chr1:
193104704-193104704

G

T

exonic

De novo

nonsynonymous SNV

NM_024529

c.G408T

p.K136N

18.29

-

Fu2022 E

CDC73

2-0144-003

chr1:
193159837-193159841

AAACT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

2-1505-004

chr1:
193189442-193189442

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

NDAR_INVZD496DT3_wes1

chr1:
193111163-193111163

G

GAC

exonic

De novo

frameshift insertion

NM_024529

c.696_697insAC

p.R232fs

-

-

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

CDC73

AU2140305

chr1:
193122895-193122895

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

5-1012-004

chr1:
193130525-193130525

A

G

intronic

De novo

-

-

Trost2022 G

CDC73

REACH000697

chr1:
193093338-193093344

GTGCACA

G

intronic

De novo

-

-

Trost2022 G

CDC73

SP0137473

chr1:
193119412-193119412

C

G

intronic

De novo

-

-

Fu2022 E

CDC73

3-0497-000

chr1:
193156809-193156809

C

T

intronic

De novo

-

-

Trost2022 G

CDC73

AU2950302

chr1:
193212067-193212087

TTTCTTCTTCTTCTTCTTCTT

TTTCTTCTTCTTCTTCTTCTTCTT

intronic

De novo

-

-

Yuen2017 G

CDC73

SP0120800

chr1:
193091352-193091352

C

T

exonic

De novo

synonymous SNV

NM_024529

c.C22T

p.L8L

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CDC73

2-0116-004

chr1:
193132637-193132637

C

A

intronic

De novo

-

-

Trost2022 G

CDC73

G01_GEA529HI

chr1:
193099215-193099215

G

A

intronic

De novo

-

-

Fu2022 E

CDC73

DEASD_0397_001

chr1:
193110969-193110969

A

G

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

CDC73

AU1725302

chr1:
193117104-193117104

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

AU2437302

chr1:
193135248-193135249

GC

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

1-0323-004

chr1:
193261322-193261322

T

C

intergenic

De novo

-

-

Yuen2017 G

CDC73

1-0700-005A

chr1:
193205316-193205316

A

G

intronic

De novo

-

-

Trost2022 G

CDC73

REACH000246

chr1:
193173314-193173314

C

T

intronic

De novo

-

-

Trost2022 G

CDC73

2-0144-004

chr1:
193159837-193159841

AAACT

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC73

2-1561-003

chr1:
193229169-193229169

G

T

intergenic

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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