Variant Results

or

Results for "TG"

Variant Events: 32

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

TG

2-1422-003

chr8:
134129800-134129800

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TG

68608

chr8:
133935689-133935689

C

T

exonic

De novo

synonymous SNV

NM_003235

c.C4635T

p.D1545D

0.016

8.243E-6

Fu2022 E

TG

SP0029600

chr8:
133931696-133931696

C

G

exonic

De novo

nonsynonymous SNV

NM_003235

c.C4454G

p.A1485G

12.59

8.239E-6

Fu2022 E

TG

SP0096603

chr8:
134034365-134034365

C

T

exonic

De novo

stopgain

NM_003235

c.C7006T

p.R2336X

49.0

1.647E-5

Fu2022 E

TG

1-0923-003

chr8:
133883698-133883698

C

T

exonic

De novo

nonsynonymous SNV

NM_003235

c.C380T

p.A127V

7.384

1.0E-4

Yuen2017 G

TG

ASC_11422-1

chr8:
133941440-133941440

G

A

intronic

De novo

-

Fu2022 E

TG

DEASD_2120_001

chr8:
133931773-133931773

A

G

intronic

De novo

-

Fu2022 E

TG

SP0124536

chr8:
133945822-133945822

G

A

exonic

De novo

synonymous SNV

NM_003235

c.G4833A

p.E1611E

0.013

8.237E-6

Fu2022 E

TG

09C83077

chr8:
134030274-134030274

T

TG

intronic

De novo

-

Satterstrom2020 E

TG

7-0256-003

chr8:
133999637-133999637

C

T

intronic

De novo

-

Yuen2017 G

TG

AU046706

chr8:
133933854-133933854

T

G

intronic

De novo

-

Yuen2017 G

TG

AU057405

chr8:
134181296-134181296

G

C

intergenic

De novo

-

Yuen2017 G

TG

2-0310-003

chr8:
133945429-133945429

G

GTGTGTA

intronic

De novo

-

Yuen2017 G

TG

AU4269301

chr8:
133942474-133942474

T

C

intronic

De novo

-

Yuen2017 G

TG

iHART1232

chr8:
133898968-133898968

C

T

exonic

Maternal

stopgain

NM_003235

c.C1351T

p.R451X

20.5

8.278E-6

Ruzzo2019 G

TG

iHART2912

chr8:
133883734-133883734

G

A

exonic

Maternal

stopgain

NM_003235

c.G416A

p.W139X

21.2

9.062E-5

Ruzzo2019 G

TG

iHART2039

chr8:
133899528-133899528

G

A

exonic

Paternal

stopgain

NM_003235

c.G1911A

p.W637X

39.0

2.551E-5

Ruzzo2019 G

TG

iHART2036

chr8:
133899528-133899528

G

A

exonic

Paternal

stopgain

NM_003235

c.G1911A

p.W637X

39.0

2.551E-5

Ruzzo2019 G

TG

1-0395-003

chr8:
133953365-133953367

CAT

C

intronic

De novo

-

Yuen2017 G

TG

11544.p1

chr8:
133935689-133935689

C

T

exonic

De novo

synonymous SNV

NM_003235

c.C4635T

p.D1545D

0.016

8.243E-6

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

TG

1-0901-003

chr8:
133945435-133945435

G

A

intronic

De novo

-

Yuen2017 G

TG

iHART3044

chr8:
134125849-134125849

T

C

splicing

Paternal

splicing

12.56

-

Ruzzo2019 G

TG

G01_GEA519HI

chr8:
134146006-134146006

G

C

intronic

De novo

-

Fu2022 E

TG

14482.p1

chr8:
134154509-134154509

G

A

intergenic

De novo

-

Turner2016 G

TG

iHART3047

chr8:
134125849-134125849

T

C

splicing

Paternal

splicing

12.56

-

Ruzzo2019 G

TG

1-0595-004

chr8:
134139505-134139505

G

A

intronic

De novo

-

Yuen2017 G

TG

2-1215-003

chr8:
134010629-134010629

C

A

intronic

De novo

-

Yuen2017 G

TG

AU002405

chr8:
134188998-134188998

A

G

intergenic

De novo

-

Yuen2017 G

TG

7-0222-003

chr8:
134147608-134147608

G

A

downstream

De novo

-

Yuen2017 G

TG

1-0051-005

chr8:
133913746-133913746

C

T

exonic

De novo

synonymous SNV

NM_003235

c.C3582T

p.S1194S

0.211

1.664E-5

Yuen2017 G

TG

1-0395-004

chr8:
133953365-133953367

CAT

C

intronic

De novo

-

Yuen2017 G

TG

AU061104

chr8:
133979491-133979491

C

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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