Variant Results

or

Results for "TECTA"

Variant Events: 30

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

TECTA

09C87450

chr11:
120996340-120996340

C

T

exonic

De novo

synonymous SNV

NM_005422

c.C1533T

p.D511D

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

TECTA

SP0056132

chr11:
121008774-121008774

C

T

intronic

De novo

-

8.626E-6

Fu2022 E

TECTA

NDAR_INVJT291VPH_wes1

chr11:
120998556-120998556

G

A

exonic

De novo

nonsynonymous SNV

NM_005422

c.G1870A

p.A624T

9.515

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

TECTA

PN400548

chr11:
121008480-121008480

G

A

exonic

Unknown

nonsynonymous SNV

NM_005422

c.G3292A

p.A1098T

32.0

1.648E-5

Leblond2019 E

TECTA

SP0044904

chr11:
121031048-121031048

G

A

exonic

De novo

nonsynonymous SNV

NM_005422

c.G4894A

p.D1632N

34.0

-

Fu2022 E

TECTA

1-0566-003

chr11:
121002947-121002947

A

G

intronic

De novo

-

Yuen2017 G

TECTA

2-1281-003

chr11:
121123903-121123903

C

A

intergenic

De novo

-

Yuen2017 G

TECTA

13618.p1

chr11:
121039453-121039453

G

A

exonic

De novo, Mosaic

nonsynonymous SNV

NM_005422

c.G5818A

p.A1940T

19.63

1.647E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

TECTA

14540.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_005422
NM_005422

c.6273_6274insGGAG
c.6274_6275insGGAG

p.N2091fs
p.G2092fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

TECTA

1-0568-003

chr11:
121087209-121087209

G

A

intergenic

De novo

-

Yuen2017 G

TECTA

1483JS0007

chr11:
120989131-120989131

G

A

exonic

De novo

nonsynonymous SNV

NM_005422

c.G907A

p.E303K

35.0

4.119E-5

Lim2017 E

TECTA

2-1223-003

chr11:
121133978-121133978

G

A

intergenic

De novo

-

Yuen2017 G

TECTA

SSC09139

chr11:
121039453-121039453

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005422

c.G5818A

p.A1940T

19.63

1.647E-5

Lim2017 E

TECTA

206-04-100546

chr11:
121008709-121008709

G

A

exonic

De novo

nonsynonymous SNV

NM_005422

c.G3521A

p.R1174Q

21.8

5.07E-5

Fu2022 E
Satterstrom2020 E

TECTA

5-0015-003

chr11:
121095238-121095238

T

C

intergenic

De novo

-

Yuen2017 G

TECTA

12163.p1

chr11:
121039588-121039588

A

C

exonic

De novo

nonsynonymous SNV

NM_005422

c.A5953C

p.T1985P

14.41

-

Satterstrom2020 E

TECTA

PN400546

chr11:
121008480-121008480

G

A

exonic

Unknown

nonsynonymous SNV

NM_005422

c.G3292A

p.A1098T

32.0

1.648E-5

Leblond2019 E

TECTA

PN400533

chr11:
121008480-121008480

G

A

exonic

Unknown

nonsynonymous SNV

NM_005422

c.G3292A

p.A1098T

32.0

1.648E-5

Leblond2019 E

TECTA

2-1322-003

chr11:
121056119-121056119

C

CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGA

intronic

De novo

-

Yuen2017 G

TECTA

AU4283301

chr11:
121047704-121047704

G

A

intronic

De novo

-

Yuen2017 G

TECTA

iHART2681

chr11:
121016805-121016805

G

A

exonic

Paternal

stopgain

NM_005422

c.G4085A

p.W1362X

42.0

3.473E-5

Ruzzo2019 G

TECTA

iHART2682

chr11:
121016805-121016805

G

A

exonic

Paternal

stopgain

NM_005422

c.G4085A

p.W1362X

42.0

3.473E-5

Ruzzo2019 G

TECTA

AU056005

chr11:
121159949-121159949

G

A

intergenic

De novo

-

Yuen2017 G

TECTA

2-0002-005

chr11:
121156133-121156133

G

A

intergenic

De novo

-

Yuen2017 G

TECTA

SJD_34

chr11:
121028796-121028796

C

T

exonic

Maternal

stopgain

NM_005422

c.C4552T

p.Q1518X

44.0

-

Toma2013 E

TECTA

2-1361-003

chr11:
121139952-121139952

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TECTA

AU4072303

chr11:
121157268-121157268

A

T

intergenic

De novo

-

Yuen2017 G

TECTA

5-0123-003

chr11:
121045799-121045799

T

G

intronic

De novo

-

Yuen2017 G

TECTA

AU4223302

chr11:
121146445-121146445

C

T

intergenic

De novo

-

Yuen2017 G

TECTA

PN400544

chr11:
121008480-121008480

G

A

exonic

Unknown

nonsynonymous SNV

NM_005422

c.G3292A

p.A1098T

32.0

1.648E-5

Leblond2019 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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