Variant Results

or

Results for "HECW2"

Variant Events: 47

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

HECW2

AU1542301

chr2:
197441780-197441780

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HECW2

MSSNG00222-003

chr2:
197432727-197432732

ATAAAG

A

intronic

De novo

-

Trost2022 G

HECW2

1-0368-004

chr2:
197472311-197472311

C

T

intergenic

De novo

-

Yuen2017 G

HECW2

MT_19.3

chr2:
197446352-197446352

G

T

intronic

De novo

-

Trost2022 G

HECW2

MT_160.3

chr2:
197373289-197373289

A

T

intronic

De novo

-

Trost2022 G

HECW2

1-0559-004

chr2:
197426402-197426405

AGAA

TTC

intronic

De novo

-

Trost2022 G

HECW2

5-0024-003

chr2:
197355042-197355042

T

G

intronic

De novo

-

Trost2022 G

HECW2

REACH000101

chr2:
197367937-197367937

C

A

intronic

De novo

-

Trost2022 G

HECW2

2-1322-004

chr2:
197453167-197453167

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HECW2

AU1894304

chr2:
197471249-197471249

T

A

intergenic

De novo

-

Yuen2017 G

HECW2

14606.p1

chr2:
197084846-197084846

T

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001304840
NM_020760

c.A3257G
c.A4325G

p.D1086G
p.D1442G

26.1

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

HECW2

Krgovic2022:039934

chr2:
197081790-197081790

C

T

exonic

Unknown

nonsynonymous SNV

NM_001304840
NM_020760

c.G3368A
c.G4436A

p.R1123Q
p.R1479Q

19.74

8.521E-6

Krgovic2022 E

HECW2

2-0244-004

chr2:
197492967-197492967

A

G

intergenic

De novo

-

Yuen2017 G

HECW2

Krgovic2022:041707

chr2:
197084878-197084878

C

A

splicing

Unknown

splicing

26.2

-

Krgovic2022 E

HECW2

1-0278-003

chr2:
197159597-197159597

G

C

intronic

De novo

-

Yuen2016 G

HECW2

SP0024763

chr2:
197172749-197172749

G

A

exonic

De novo

nonsynonymous SNV

NM_001304840
NM_020760

c.C1427T
c.C2495T

p.T476I
p.T832I

24.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HECW2

SSC03717

chr2:
197106887-197106887

G

A

exonic

De novo

nonsynonymous SNV

NM_001304840
NM_020760

c.C2503T
c.C3571T

p.R835W
p.R1191W

18.67

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

HECW2

AU4013301

chr2:
197385049-197385049

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HECW2

13393.p1

chr2:
197362902-197362902

T

G

intronic

De novo

-

Turner2016 G

HECW2

SP0011398

chr2:
197086953-197086953

G

A

exonic

De novo

synonymous SNV

NM_001304840
NM_020760

c.C3060T
c.C4128T

p.N1020N
p.N1376N

-

2.476E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HECW2

SP0107096

chr2:
197298024-197298024

T

A

exonic

De novo

nonsynonymous SNV

NM_020760

c.A124T

p.T42S

8.971

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HECW2

AU057404

chr2:
197487038-197487038

G

A

intergenic

De novo

-

Yuen2017 G

HECW2

SP0022391

chr2:
197143216-197143216

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

HECW2

2-0299-003

chr2:
197063293-197063294

GC

CT

downstream

De novo

-

Trost2022 G

HECW2

11978.p1

chr2:
197106887-197106887

G

A

exonic

De novo

nonsynonymous SNV

NM_001304840
NM_020760

c.C2503T
c.C3571T

p.R835W
p.R1191W

18.67

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

HECW2

2-1005-003

chr2:
197076710-197076710

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HECW2

2-1251-003

chr2:
197275020-197275020

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HECW2

1-0278-003A

chr2:
197159597-197159597

G

C

intronic

De novo

-

Trost2022 G

HECW2

1-0018-004

chr2:
197164925-197164925

G

C

intronic

De novo

-

Trost2022 G

HECW2

1-1159-004

chr2:
197112635-197112635

A

T

intronic

De novo

-

Trost2022 G

HECW2

7-0202-003

chr2:
197156000-197156000

T

A

intronic

De novo

-

Trost2022 G

HECW2

MSSNG00334-003

chr2:
197098471-197098471

T

C

intronic

De novo

-

Trost2022 G

HECW2

REACH000292

chr2:
197104513-197104513

T

C

intronic

De novo

-

Trost2022 G

HECW2

9-0027-003

chr2:
197067999-197067999

T

C

intronic

De novo

-

Trost2022 G

HECW2

36990

chr2:
197084846-197084846

T

C

exonic

De novo

nonsynonymous SNV

NM_001304840
NM_020760

c.A3257G
c.A4325G

p.D1086G
p.D1442G

26.1

-

Trost2022 G

HECW2

09C79813

chr2:
197122666-197122666

G

GTAGA

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

HECW2

MSSNG00022-003

chr2:
197331233-197331233

T

TC

intronic

De novo

-

Trost2022 G

HECW2

SP0031033

chr2:
197184552-197184552

G

A

exonic

De novo

synonymous SNV

NM_020760

c.C1062T

p.D354D

-

3.0E-4

Trost2022 G
Zhou2022 GE

HECW2

5-0039-003

chr2:
197336586-197336586

G

A

intronic

De novo

-

Trost2022 G

HECW2

3-0467-000

chr2:
197234613-197234613

T

C

intronic

De novo

-

Trost2022 G

HECW2

SP0058702

chr2:
197298216-197298216

C

T

intronic

De novo

-

Trost2022 G

HECW2

5-0026-003

chr2:
197190897-197190897

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

HECW2

5-0049-003

chr2:
197209232-197209232

A

G

intronic

De novo

-

Trost2022 G

HECW2

2-1359-005

chr2:
197212434-197212434

A

C

intronic

De novo

-

Trost2022 G

HECW2

SP0059198

chr2:
197171952-197171952

T

G

exonic

nonsynonymous SNV

NM_001304840
NM_020760

c.A1523C
c.A2591C

p.Q508P
p.Q864P

23.8

-

Zhou2022 GE

HECW2

3-0626-000A

chr2:
197175656-197175656

G

A

intronic

De novo

-

Trost2022 G

HECW2

3-0294-000

chr2:
197189084-197189084

T

C

intronic

De novo

-

Trost2022 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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