Variant Results

or

Results for "ICE1"

Variant Events: 83

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

ICE1

AU3857301

chr5:
5809141-5809141

G

T

intergenic

De novo

-

Yuen2017 G

ICE1

63-449

chr5:
5796383-5796383

T

A

intergenic

De novo

-

Michaelson2012 G

ICE1

74-0265

chr5:
6150563-6150563

T

C

intergenic

De novo

-

Michaelson2012 G

ICE1

2-1591-003

chr5:
5768315-5768315

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

13023.p1

chr5:
5913097-5913097

C

T

intergenic

De novo

-

Turner2016 G

ICE1

11572.p1

chr5:
6274860-6274860

T

C

intergenic

De novo

-

Turner2016 G

ICE1

3-0428-000

chr5:
6085594-6085594

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ICE1

2-1364-003

chr5:
5608616-5608616

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

Shi2013:1

chr5:
5457476-5457476

A

T

exonic

Inherited

nonsynonymous SNV

NM_015325

c.A723T

p.R241S

13.88

6.146E-5

Shi2013 G

ICE1

2-0129-004

chr5:
5894190-5894190

C

A

intergenic

De novo

-

Yuen2017 G

ICE1

2-0007-003

chr5:
6156593-6156593

T

A

intergenic

De novo

-

Yuen2017 G

ICE1

AU2711303

chr5:
5440673-5440673

A

T

intronic

De novo

-

Yuen2017 G

ICE1

Marques2022:256

chr5:
5443323-5443323

C

T

exonic

nonsynonymous SNV

NM_015325

c.C352T

p.R118C

22.1

4.47E-5

Marques2022 ET

ICE1

AU4150301

chr5:
5826691-5826691

T

C

intergenic

De novo

-

Yuen2017 G

ICE1

1-0092-003

chr5:
6012316-6012316

G

A

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:262

chr5:
5461867-5461867

C

A

exonic

nonsynonymous SNV

NM_015325

c.C2420A

p.A807D

15.65

-

Marques2022 ET

ICE1

5-0084-003

chr5:
5800098-5800098

G

A

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:261

chr5:
5461552-5461552

G

T

exonic

nonsynonymous SNV

NM_015325

c.G2105T

p.S702I

15.99

3.0E-4

Marques2022 ET

ICE1

Marques2022:264

chr5:
5462905-5462905

C

T

exonic

nonsynonymous SNV

NM_015325

c.C3458T

p.T1153M

18.96

1.0E-4

Marques2022 ET

ICE1

Marques2022:263

chr5:
5462742-5462742

G

A

exonic

nonsynonymous SNV

NM_015325

c.G3295A

p.G1099S

19.75

-

Marques2022 ET

ICE1

1-0559-003

chr5:
5971893-5971893

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:258

chr5:
5457507-5457507

A

AC

exonic

frameshift insertion

NM_015325

c.755dupC

p.T252fs

-

8.58E-6

Marques2022 ET

ICE1

Marques2022:257

chr5:
5447995-5447995

G

A

exonic

nonsynonymous SNV

NM_015325

c.G589A

p.G197R

21.8

-

Marques2022 ET

ICE1

Marques2022:260

chr5:
5457853-5457853

C

T

exonic

nonsynonymous SNV

NM_015325

c.C1100T

p.P367L

16.79

5.114E-5

Marques2022 ET

ICE1

Marques2022:259

chr5:
5457838-5457838

C

T

exonic

nonsynonymous SNV

NM_015325

c.C1085T

p.P362L

14.7

2.0E-4

Marques2022 ET

ICE1

Marques2022:270

chr5:
5464246-5464246

A

G

exonic

nonsynonymous SNV

NM_015325

c.A4799G

p.Q1600R

20.0

0.001

Marques2022 ET

ICE1

Marques2022:269

chr5:
5464170-5464170

A

G

exonic

nonsynonymous SNV

NM_015325

c.A4723G

p.R1575G

12.29

-

Marques2022 ET

ICE1

2-1502-003

chr5:
5518444-5518444

G

C

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:272

chr5:
5464411-5464411

C

T

exonic

nonsynonymous SNV

NM_015325

c.C4964T

p.S1655L

19.15

0.0027

Marques2022 ET

ICE1

AU3302302

chr5:
5879917-5879917

C

A

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:271

chr5:
5464411-5464411

C

T

exonic

nonsynonymous SNV

NM_015325

c.C4964T

p.S1655L

19.15

0.0027

Marques2022 ET

ICE1

Marques2022:266

chr5:
5463484-5463484

C

G

exonic

nonsynonymous SNV

NM_015325

c.C4037G

p.P1346R

13.5

2.0E-4

Marques2022 ET

ICE1

1-0566-003

chr5:
5807261-5807273

CCTCTCTCTCTCT

CCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:265

chr5:
5463484-5463484

C

G

exonic

nonsynonymous SNV

NM_015325

c.C4037G

p.P1346R

13.5

2.0E-4

Marques2022 ET

ICE1

AU060803

chr5:
6084009-6084016

ACACTCAC

ACAC

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:268

chr5:
5464137-5464141

TCAAA

T

exonic

frameshift deletion

NM_015325

c.4691_4694del

p.S1564fs

-

Marques2022 ET

ICE1

AU1988301

chr5:
5994580-5994580

G

A

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:267

chr5:
5464024-5464024

A

G

exonic

nonsynonymous SNV

NM_015325

c.A4577G

p.Y1526C

14.65

1.0E-4

Marques2022 ET

ICE1

Marques2022:278

chr5:
5476136-5476136

A

G

exonic

nonsynonymous SNV

NM_015325

c.A6464G

p.H2155R

11.23

7.618E-5

Marques2022 ET

ICE1

Marques2022:277

chr5:
5473763-5473763

T

G

exonic

nonsynonymous SNV

NM_015325

c.T6315G

p.F2105L

21.6

-

Marques2022 ET

ICE1

AU076808

chr5:
6024327-6024327

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:280

chr5:
5489307-5489307

A

C

exonic

nonsynonymous SNV

NM_015325

c.A6665C

p.D2222A

21.9

-

Marques2022 ET

ICE1

Marques2022:279

chr5:
5486926-5486926

G

A

exonic

nonsynonymous SNV

NM_015325

c.G6613A

p.D2205N

25.1

2.0E-4

Marques2022 ET

ICE1

Marques2022:274

chr5:
5464543-5464543

C

G

exonic

nonsynonymous SNV

NM_015325

c.C5096G

p.S1699C

17.04

-

Marques2022 ET

ICE1

Marques2022:273

chr5:
5464503-5464503

G

C

exonic

nonsynonymous SNV

NM_015325

c.G5056C

p.E1686Q

15.03

2.0E-4

Marques2022 ET

ICE1

Marques2022:276

chr5:
5473731-5473731

C

T

exonic

nonsynonymous SNV

NM_015325

c.C6283T

p.P2095S

19.6

1.683E-5

Marques2022 ET

ICE1

Marques2022:275

chr5:
5465214-5465214

G

A

exonic

nonsynonymous SNV

NM_015325

c.G5767A

p.A1923T

28.4

9.691E-6

Marques2022 ET

ICE1

2-1731-003

chr5:
5992812-5992812

G

A

intergenic

De novo

-

Yuen2017 G

ICE1

AU4012302

chr5:
6003284-6003284

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

Marques2022:282

chr5:
5489415-5489415

G

T

exonic

nonsynonymous SNV

NM_015325

c.G6773T

p.S2258I

15.45

-

Marques2022 ET

ICE1

Marques2022:281

chr5:
5489358-5489358

G

A

exonic

nonsynonymous SNV

NM_015325

c.G6716A

p.R2239Q

23.2

8.488E-6

Marques2022 ET

ICE1

AU3984302

chr5:
5533500-5533500

A

G

intergenic

De novo

-

Yuen2017 G

ICE1

AU3866301

chr5:
6105393-6105393

A

T

intergenic

De novo

-

Yuen2017 G

ICE1

1-0203-004

chr5:
5743611-5743611

A

G

intergenic

De novo

-

Yuen2017 G

ICE1

AU3866301

chr5:
6105578-6105578

G

C

intergenic

De novo

-

Yuen2017 G

ICE1

1-0080-003

chr5:
5968436-5968436

T

C

intergenic

De novo

-

Yuen2017 G

ICE1

SP0041147

chr5:
5441265-5441265

C

CA

exonic

De novo

frameshift insertion

NM_015325

c.239dupA

p.Q80fs

-

Fu2022 E

ICE1

AU3918301

chr5:
5845771-5845771

A

T

intergenic

De novo

-

Yuen2017 G

ICE1

Shi2013:2

chr5:
5457476-5457476

A

T

exonic

Inherited

nonsynonymous SNV

NM_015325

c.A723T

p.R241S

13.88

6.146E-5

Shi2013 G

ICE1

3-0456-000B

chr5:
5938320-5938320

G

A

intergenic

De novo

-

Yuen2017 G

ICE1

2-0298-003

chr5:
5846224-5846224

G

T

intergenic

De novo

-

Yuen2017 G

ICE1

2-1562-004

chr5:
6088435-6088435

T

C

intergenic

De novo

-

Yuen2017 G

ICE1

5-0083-003

chr5:
6131424-6131424

C

A

intergenic

De novo

-

Yuen2017 G

ICE1

1-0191-004

chr5:
5439983-5439983

C

T

intronic

De novo

-

Yuen2017 G

ICE1

AU3839303

chr5:
6271169-6271169

T

C

intergenic

De novo

-

Yuen2017 G

ICE1

3-0456-000

chr5:
5938320-5938320

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ICE1

AU3852301

chr5:
5447860-5447865

GAAAAA

GAAAAAA

exonic

De novo

frameshift insertion

NM_015325

c.539dupA

p.N180fs

-

Yuen2017 G

ICE1

2-1362-003

chr5:
5916381-5916381

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

1-0473-003

chr5:
5701996-5701996

G

C

intergenic

De novo

-

Yuen2017 G

ICE1

13424.p1

chr5:
5465273-5465273

C

T

exonic

De novo

synonymous SNV

NM_015325

c.C5826T

p.I1942I

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ICE1

1-0568-003

chr5:
5621982-5621982

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

1-0191-003

chr5:
5779314-5779314

C

A

intergenic

De novo

-

Yuen2017 G

ICE1

1-0338-003

chr5:
6038256-6038256

C

G

intergenic

De novo

-

Yuen2017 G

ICE1

AU038203

chr5:
5983541-5983541

G

T

intergenic

De novo

-

Yuen2017 G

ICE1

SSC07950

chr5:
5465273-5465273

C

T

exonic

De novo

synonymous SNV

NM_015325

c.C5826T

p.I1942I

-

Fu2022 E

ICE1

AU1635302

chr5:
6135198-6135198

G

T

intergenic

De novo

-

Yuen2017 G

ICE1

NDAR_INVEB022VLQ_wes1

chr5:
5457449-5457449

A

C

exonic

De novo

nonsynonymous SNV

NM_015325

c.A696C

p.K232N

12.88

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ICE1

7-0106-003

chr5:
6250645-6250645

A

T

intergenic

De novo

-

Yuen2017 G

ICE1

1-0755-003

chr5:
5742514-5742514

G

A

intergenic

De novo

-

Yuen2017 G

ICE1

3-0185-000

chr5:
6249356-6249356

C

T

intergenic

De novo

-

Yuen2017 G

ICE1

5-0128-003

chr5:
5467737-5467737

G

T

intronic

De novo

-

Yuen2017 G

ICE1

1-0751-003

chr5:
5707455-5707455

C

G

intergenic

De novo

-

Yuen2017 G

ICE1

1-0153-004

chr5:
6001062-6001062

C

T

intergenic

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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