Variant Results

or

Results for "HERC2"

Variant Events: 106

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

HERC2

PN400103

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400366

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400117

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

SP0052332

chr15:
28422157-28422164

CCCCAGGT

C

exonic

frameshift deletion

NM_004667

c.9364_9370del

p.T3122fs

-

Antaki2022 GE
Zhou2022 GE

HERC2

PN400170

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400194

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400347

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400246

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400587

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400383

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400498

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

AU3951302

chr15:
28565343-28565343

C

A

intronic

De novo

-

Yuen2017 G

HERC2

PN400434

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400305

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400410

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400367

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

68687

chr15:
28369345-28369345

G

T

exonic

De novo

synonymous SNV

NM_004667

c.C13026A

p.P4342P

-

Fu2022 E
Trost2022 G

HERC2

36050

chr15:
28506003-28506003

G

A

exonic

De novo

nonsynonymous SNV

NM_004667

c.C2236T

p.R746C

15.0

-

Fu2022 E
Trost2022 G

HERC2

1-0259-003

chr15:
28514213-28514213

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HERC2

PN400348

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

Viggiano2022:22.3

chr15:
28387515-28387515

G

C

exonic

Paternal

nonsynonymous SNV

NM_004667

c.C11569G

p.L3857V

19.45

-

Viggiano2022 GT

HERC2

PN400118

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400385

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400551

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400277

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

SP0031215

chr15:
28420637-28420637

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

HERC2

SP0111272

chr15:
28413544-28413544

C

T

intronic

De novo

-

5.06E-5

Fu2022 E

HERC2

SP0115124

chr15:
28519626-28519626

C

G

intronic

De novo

-

8.827E-5

Fu2022 E
Trost2022 G

HERC2

SP0001063

chr15:
28515823-28515823

C

T

intronic

De novo

-

4.207E-5

Fu2022 E
Trost2022 G

HERC2

SP0087797

chr15:
28387448-28387448

A

G

exonic

De novo

nonsynonymous SNV

NM_004667

c.T11636C

p.M3879T

13.38

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HERC2

Viggiano2022:22.4

chr15:
28387515-28387515

G

C

exonic

Paternal

nonsynonymous SNV

NM_004667

c.C11569G

p.L3857V

19.45

-

Viggiano2022 GT

HERC2

AU4079301

chr15:
28561386-28561422

AAAAAAAAGGAATTGTCATCAAAGTCCTACGGCTAAA

AAAA

intronic

De novo

-

Yuen2017 G

HERC2

SP0086064

chr15:
28387576-28387576

A

C

intronic

De novo

-

Fu2022 E

HERC2

SP0050537

chr15:
28421861-28421861

G

A

exonic

De novo

synonymous SNV

NM_004667

c.C9486T

p.D3162D

-

5.767E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HERC2

DEASD_0043_002

chr15:
28377973-28377973

C

T

exonic

De novo

synonymous SNV

NM_004667

c.G12234A

p.P4078P

-

2.571E-5

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

HERC2

SP0017418

chr15:
28499479-28499479

G

A

intronic

De novo

-

1.663E-5

Fu2022 E
Zhou2022 GE

HERC2

PN400412

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400203

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

Lim2017:68687

chr15:
28369345-28369345

G

T

exonic

De novo

synonymous SNV

NM_004667

c.C13026A

p.P4342P

-

Lim2017 E

HERC2

PN400441

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

Lim2017:36050

chr15:
28506003-28506003

G

A

exonic

De novo

nonsynonymous SNV

NM_004667

c.C2236T

p.R746C

15.0

-

Lim2017 E

HERC2

PN400286

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400514

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400127

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400178

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400554

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400262

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400415

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

DEASD_1048_001

chr15:
28473359-28473359

C

T

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HERC2

PN400371

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

1-0405-003

chr15:
28411298-28411298

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HERC2

21969-37814

chr15:
28422649-28422649

C

T

exonic

Inherited

nonsynonymous SNV

NM_004667

c.G9170A

p.R3057Q

37.0

-

Callaghan2019 G

HERC2

AU2975301

chr15:
28561169-28561169

G

A

intronic

De novo

-

Yuen2017 G

HERC2

PN400490

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400252

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400312

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400280

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400205

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

12324.p1

chr15:
28369345-28369345

G

T

exonic

De novo

synonymous SNV

NM_004667

c.C13026A

p.P4342P

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

HERC2

14243.p1

chr15:
28506003-28506003

G

A

exonic

De novo

nonsynonymous SNV

NM_004667

c.C2236T

p.R746C

15.0

-

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

HERC2

PN400113

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

3-0666-001

chr15:
28439532-28439532

C

T

intronic

De novo

-

Trost2022 G

HERC2

5-1009-003

chr15:
28493354-28493354

T

C

intronic

De novo

-

Trost2022 G

HERC2

SP0085398

chr15:
28424390-28424391

CA

C

intronic

De novo

-

0.0156

Trost2022 G

HERC2

1-0599-005

chr15:
28431159-28431159

G

A

intronic

De novo

-

Trost2022 G

HERC2

MT_181.3

chr15:
28399959-28399959

C

T

intronic

De novo

-

Trost2022 G

HERC2

1-0853-003

chr15:
28417719-28417719

A

C

intronic

De novo

-

Trost2022 G

HERC2

3-0475-000

chr15:
28369924-28369924

G

A

intronic

De novo

-

Trost2022 G

HERC2

1-1162-003

chr15:
28398837-28398837

A

G

intronic

De novo

-

Trost2022 G

HERC2

PN400455

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

REACH000228

chr15:
28545065-28545065

G

A

intronic

De novo

-

Trost2022 G

HERC2

2-1811-003

chr15:
28502976-28502976

G

A

intronic

De novo

-

Trost2022 G

HERC2

SJD_66.3

chr15:
28541655-28541655

T

A

intronic

De novo

-

Trost2022 G

HERC2

AU4242302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

HERC2

3-0719-001

chr15:
28501866-28501866

G

A

intronic

De novo

-

Trost2022 G

HERC2

PN400491

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

11824.p1

chr15:
28427543-28427543

G

T

intronic

Mosaic

-

Dou2017 E

HERC2

PN400517

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400543

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400209

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400359

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400266

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400457

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400394

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

AU076509

chr15:
28361136-28361136

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HERC2

PN400292

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

11521.p1

chr15:
28460913-28460913

G

A

exonic

De novo

nonsynonymous SNV

NM_004667

c.C6064T

p.R2022W

18.01

1.728E-5

Ji2016 E
Zhou2022 GE

HERC2

SP0032965

chr15:
28525445-28525445

G

C

intronic

De novo

-

Fu2022 E

HERC2

PN400213

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400518

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400157

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400361

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400506

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400267

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400128

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400321

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400396

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400363

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400495

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400283

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400533

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400166

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400190

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400102

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

PN400116

chr15:
28518114-28518115

TC

T

exonic

Unknown

frameshift deletion

NM_004667

c.836delG

p.G279fs

-

0.1711

Leblond2019 E

HERC2

2-1427-003

chr15:
28520495-28520495

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

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Title
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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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