Variant Results

or

Results for "HERC1"

Variant Events: 34

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

HERC1

1-0826-004

chr15:
64083898-64083898

T

C

intronic

De novo

-

Yuen2017 G

HERC1

004-05-102519

chr15:
63928210-63928210

G

A

exonic

De novo

stopgain

NM_003922

c.C12364T

p.Q4122X

54.0

-

Fu2022 E
Satterstrom2020 E

HERC1

AU3912302

chr15:
64034450-64034450

A

C

intronic

De novo

-

Yuen2017 G

HERC1

JASD_Fam0053

chr15:
64047525-64047525

C

T

splicing

De novo

splicing

33.0

-

Takata2018 E

HERC1

JASD_Fam0128

chr15:
64039940-64039940

G

A

exonic

De novo

synonymous SNV

NM_003922

c.C2337T

p.L779L

-

Takata2018 E

HERC1

2-0198-005

chr15:
64011665-64011665

C

T

intronic

De novo

-

Yuen2017 G

HERC1

2-0242-003

chr15:
63909354-63909354

C

CCCCGCT

intronic

De novo

-

Yuen2017 G

HERC1

AU3874302

chr15:
64052058-64052058

T

C

intronic

De novo

-

Yuen2017 G

HERC1

iHART2039

chr15:
63932419-63932419

G

A

exonic

Maternal

stopgain

NM_003922

c.C11833T

p.Q3945X

53.0

-

Ruzzo2019 G

HERC1

SP0053825

chr15:
64048682-64048682

G

T

exonic

stopgain

NM_003922

c.C1487A

p.S496X

38.0

-

Antaki2022 GE

HERC1

08C75173

chr15:
63999046-63999046

A

T

intronic

De novo

-

Satterstrom2020 E

HERC1

AU3790302

chr15:
63996506-63996506

C

T

intronic

De novo

-

Yuen2017 G

HERC1

08C72441

chr15:
64011140-64011140

A

C

intronic

De novo

-

Satterstrom2020 E

HERC1

12871.p1

chr15:
64017613-64017613

A

G

exonic

De novo

nonsynonymous SNV

NM_003922

c.T3446C

p.I1149T

17.97

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

HERC1

1-0080-003

chr15:
63917156-63917156

C

T

intronic

De novo

-

Yuen2017 G

HERC1

9190789

chr15:
63922772-63922772

C

T

exonic

De novo

nonsynonymous SNV

NM_003922

c.G12859A

p.V4287I

14.6

-

Fu2022 E

HERC1

11391.p1

chr15:
63935113-63935113

T

G

intronic

De novo

-

Satterstrom2020 E

HERC1

2-0198-004

chr15:
64011665-64011665

C

T

intronic

De novo

-

Yuen2017 G

HERC1

P0415

chr15:
63927042-63927042

T

A

exonic

De novo

stopgain

NM_003922

c.A12460T

p.K4154X

55.0

-

Hashimoto2016 E

HERC1

12950.p1

chr15:
64008491-64008491

G

C

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

HERC1

2-0007-004

chr15:
64097512-64097512

T

C

intronic

De novo

-

Yuen2017 G

HERC1

2-1264-003

chr15:
64038126-64038126

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

HERC1

1-0126-003

chr15:
63938162-63938162

G

A

intronic

De novo

-

Yuen2017 G

HERC1

1-0593-003

chr15:
63946251-63946265

TGAGAAGAGAAGAGA

TGAGAAGAGA

intronic

De novo

-

Yuen2017 G

HERC1

2-1381-003

chr15:
64034908-64034908

G

A

intronic

De novo

-

Yuen2017 G

HERC1

SP0010256

chr15:
63915071-63915071

A

G

exonic

De novo

nonsynonymous SNV

NM_003922

c.T13631C

p.V4544A

24.5

-

Fu2022 E

HERC1

SP0049557

chr15:
63966848-63966848

G

A

exonic

De novo

synonymous SNV

NM_003922

c.C7539T

p.L2513L

-

4.285E-5

Fu2022 E

HERC1

SP0110352

chr15:
63967030-63967030

T

C

exonic

De novo

nonsynonymous SNV

NM_003922

c.A7357G

p.S2453G

2.038

-

Fu2022 E

HERC1

2-0122-003

chr15:
64126908-64126908

A

G

upstream

De novo

-

Yuen2017 G

HERC1

2-1205-003

chr15:
64095772-64095772

C

A

intronic

De novo

-

Yuen2017 G

HERC1

1-0006-003

chr15:
63973235-63973238

TTAA

T

intronic

De novo

-

Yuen2017 G

HERC1

14682.p1

chr15:
63937724-63937724

C

T

exonic

De novo

nonsynonymous SNV

NM_003922

c.G11036A

p.R3679H

16.48

0.0016

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G

HERC1

SSC06434

chr15:
64017613-64017613

A

G

exonic

De novo

nonsynonymous SNV

NM_003922

c.T3446C

p.I1149T

17.97

-

Fu2022 E
Lim2017 E

HERC1

SP0064355

chr15:
63948581-63948581

A

C

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
Curation notes	View
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