Variant Results

or

Results for "CTU2"

Variant Events: 14

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

CTU2

MT_109

chr16:
88780568-88780568

C

T

exonic

Maternal

nonsynonymous SNV

NM_001012759
NM_001012762

c.C1030T
c.C1030T

p.R344W
p.R344W

18.85

1.667E-5

Toma2013 E

CTU2

237-09-111440

chr16:
88779329-88779329

C

CCCCCTTCCCCGGGCCCTGACCGCCACTCATGCCCCCGAGAG

intronic

De novo

-

Satterstrom2020 E

CTU2

593984664126-C

chr16:
88776877-88777011

TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAGAAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGC

T

intronic

De novo

-

Fu2022 E

CTU2

iHART2528

chr16:
88781455-88781455

G

A

splicing

Maternal

splicing

10.84

3.51E-5

Ruzzo2019 G

CTU2

161133

chr16:
88779224-88779224

G

GCCTGCC

exonic

De novo

nonframeshift insertion

NM_001012759
NM_001012762

c.648_649insCCTGCC
c.648_649insCCTGCC

p.P216delinsPPA
p.P216delinsPPA

-

Fu2022 E

CTU2

iHART1080

chr16:
88779303-88779303

C

T

exonic

Maternal

stopgain

NM_001012759
NM_001012762

c.C727T
c.C727T

p.Q243X
p.Q243X

32.0

-

Ruzzo2019 G

CTU2

iHART2527

chr16:
88781455-88781455

G

A

splicing

Maternal

splicing

10.84

3.51E-5

Ruzzo2019 G

CTU2

iHART1244

chr16:
88781273-88781273

A

AC

exonic

Maternal

frameshift insertion

NM_001012759
NM_001012762

c.1359dupC
c.1359dupC

p.D453fs
p.D453fs

-

8.42E-6

Ruzzo2019 G

CTU2

12350.p1

chr16:
88779854-88779854

C

T

exonic

Mosaic

nonsynonymous SNV

NM_001012759
NM_001012762

c.C872T
c.C872T

p.T291M
p.T291M

23.5

5.094E-5

Dou2017 E

CTU2

AU4159301

chr16:
88773475-88773475

C

T

intronic

De novo

-

Yuen2017 G

CTU2

SP0126405

chr16:
88779836-88779836

C

A

exonic

De novo

nonsynonymous SNV

NM_001012759
NM_001012762

c.C854A
c.C854A

p.A285D
p.A285D

26.6

8.419E-6

Fu2022 E

CTU2

SP0080963

chr16:
88781198-88781198

C

G

intronic

De novo

-

Fu2022 E

CTU2

SP0014997

chr16:
88779196-88779196

C

T

exonic

De novo

nonsynonymous SNV

NM_001012759
NM_001012762

c.C620T
c.C620T

p.P207L
p.P207L

4.791

-

Fu2022 E

CTU2

SP0104592

chr16:
88780513-88780513

T

G

intronic

De novo

-

Fu2022 E

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
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