Variant Results

or

Results for "HECTD4"

Variant Events: 26

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

HECTD4

2-1300-003

chr12:
112724318-112724333

AACACACACACACACA

AACACACACACACA

intronic

De novo

-

Yuen2017 G

HECTD4

SP0083761

chr12:
112623062-112623062

G

T

exonic

De novo

stopgain

NM_001109662

c.C9306A

p.C3102X

52.0

-

Antaki2022 GE
Fu2022 E

HECTD4

AU4015301

chr12:
112780498-112780498

G

T

intronic

De novo

-

Yuen2017 G

HECTD4

1245011

chr12:
112708033-112708033

G

C

exonic

De novo

nonsynonymous SNV

NM_001109662

c.C1741G

p.Q581E

19.14

-

Fu2022 E
Satterstrom2020 E

HECTD4

AU08903

chr12:
112600303-112600303

C

T

exonic

De novo

nonsynonymous SNV

NM_001109662

c.G12743A

p.R4248H

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

HECTD4

UK10K_SKUSE5080168

chr12:
112607491-112607491

A

C

intronic

De novo

-

0.0218

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

HECTD4

AU040A

chr12:
112614406-112614406

G

A

exonic

De novo

stopgain

NM_001109662

c.C11062T

p.Q3688X

57.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

HECTD4

Mahjani2021:34

chr12:
112697067-112697067

A

T

exonic

stopgain

NM_001109662

c.T2444A

p.L815X

42.0

-

Mahjani2021 E

HECTD4

SP0123783

chr12:
112716990-112716990

T

G

intronic

De novo

-

Fu2022 E

HECTD4

13589.p1

chr12:
112654745-112654745

G

C

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

HECTD4

SP0112671

chr12:
112757517-112757517

C

T

UTR5

De novo

-

Fu2022 E

HECTD4

14071_p1

chr12:
112623302-112623302

G

T

intronic

De novo

-

Fu2022 E

HECTD4

5012

chr12:
112608244-112608247

TAGA

T

exonic

De novo

nonframeshift deletion

NM_001109662

c.11540_11542del

p.3847_3848del

-

Fu2022 E

HECTD4

SP0085898

chr12:
112690287-112690287

G

C

exonic

De novo

nonsynonymous SNV

NM_001109662

c.C3091G

p.R1031G

31.0

-

Fu2022 E

HECTD4

SP0001591

chr12:
112757432-112757432

G

A

UTR5

De novo

-

Fu2022 E

HECTD4

Husson2020:285

chr12:
112622934-112622935

CC

C

exonic

Maternal

frameshift deletion

NM_001109662

c.9433delG

p.G3145fs

-

Husson2020 E

HECTD4

AU3727303

chr12:
112743338-112743338

T

C

intronic

De novo

-

Yuen2017 G

HECTD4

2-1277-004

chr12:
112669403-112669403

T

TG

exonic

De novo

frameshift insertion

NM_001109662

c.5711dupC

p.P1904fs

-

Yuen2017 G

HECTD4

AU030703

chr12:
112604674-112604674

C

T

intronic

De novo

-

Yuen2017 G

HECTD4

12072.p1

chr12:
112681380-112681380

G

A

intronic

De novo

-

Satterstrom2020 E

HECTD4

Lim2017:68711

chr12:
112638596-112638596

C

A

exonic

De novo

stopgain

NM_001109662

c.G8011T

p.E2671X

54.0

-

Lim2017 E

HECTD4

13815.p1

chr12:
112608244-112608247

TAGA

T

exonic

De novo

nonframeshift deletion

NM_001109662

c.11540_11542del

p.3847_3848del

-

Satterstrom2020 E

HECTD4

1-0744-003

chr12:
112675965-112675968

TAAA

TAA

intronic

De novo

-

Yuen2017 G

HECTD4

19890-31485

chr12:
112677784-112677784

G

T

exonic

Inherited

nonsynonymous SNV

NM_001109662

c.C4604A

p.A1535D

33.0

-

Callaghan2019 G

HECTD4

12540.p1

chr12:
112638596-112638596

C

A

exonic

Mosaic, De novo

stopgain

NM_001109662

c.G8011T

p.E2671X

54.0

-

Dou2017 E
Ji2016 E
Krumm2015 E

HECTD4

1-0206-004

chr12:
112722771-112722771

G

A

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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