Variant Results

or

Results for "TECPR2"

Variant Events: 31

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

TECPR2

AU3702306

chr14:
102831091-102831091

C

T

intronic

De novo

-

Yuen2017 G

TECPR2

SP0090691

chr14:
102906952-102906952

C

T

intronic

De novo

-

8.334E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

TECPR2

1-1133-003

chr14:
102969481-102969481

C

T

downstream

De novo

-

Trost2022 G
Trost2022 G

TECPR2

SP0086991

chr14:
102906809-102906809

G

A

exonic

De novo

nonsynonymous SNV

NM_001172631
NM_014844

c.G2615A
c.G2615A

p.R872Q
p.R872Q

17.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TECPR2

3-0802-000

chr14:
102957739-102957739

G

C

intronic

De novo

-

Trost2022 G

TECPR2

4006001

chr14:
102964436-102964436

G

T

intronic

De novo

-

Fu2022 E

TECPR2

MSSNG00011-004

chr14:
102965854-102965854

G

A

UTR3

De novo

-

Trost2022 G

TECPR2

iHART1145

chr14:
102898366-102898367

CT

C

exonic

Paternal

frameshift deletion

NM_001172631
NM_014844

c.1319delT
c.1319delT

p.L440fs
p.L440fs

-

7.174E-5

Ruzzo2019 G

TECPR2

1-0508-003

chr14:
102875312-102875312

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

AU3849302

chr14:
102957542-102957542

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

5-0042-003

chr14:
102953184-102953184

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

1-0357-003

chr14:
102943655-102943655

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

1-0336-003

chr14:
102871396-102871396

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

mAGRE1145

chr14:
102898366-102898367

CT

C

exonic

Paternal

frameshift deletion

NM_001172631
NM_014844

c.1319delT
c.1319delT

p.L440fs
p.L440fs

-

7.174E-5

Cirnigliaro2023 G

TECPR2

AU4089301

chr14:
102961565-102961565

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

1-0296-004

chr14:
102879023-102879023

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

mAGRE6047

chr14:
102912281-102912281

G

A

exonic

Paternal

stopgain

NM_001172631
NM_014844

c.G3072A
c.G3072A

p.W1024X
p.W1024X

43.0

8.26E-6

Cirnigliaro2023 G

TECPR2

mAGRE6046

chr14:
102912281-102912281

G

A

exonic

Paternal

stopgain

NM_001172631
NM_014844

c.G3072A
c.G3072A

p.W1024X
p.W1024X

43.0

8.26E-6

Cirnigliaro2023 G

TECPR2

2-0081-003

chr14:
102967509-102967509

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

74-0265

chr14:
102913784-102913784

C

G

intronic

De novo

-

Michaelson2012 G

TECPR2

MSSNG00383-003

chr14:
102943721-102943725

GGAAA

G

intronic

De novo

-

Trost2022 G

TECPR2

2-1244-003

chr14:
102888192-102888192

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TECPR2

1-0644-003

chr14:
102946301-102946301

T

C

intronic

De novo

-

Trost2022 G

TECPR2

4-0069-003

chr14:
102897818-102897821

CCCC

TACA

intronic

De novo

-

Trost2022 G

TECPR2

1-1008-003

chr14:
102922764-102922764

G

A

intronic

De novo

-

Trost2022 G

TECPR2

1-0695-004

chr14:
102892147-102892147

G

A

intronic

De novo

-

Trost2022 G

TECPR2

SP0094767

chr14:
102894568-102894568

T

G

intronic

De novo

-

0.0014

Trost2022 G

TECPR2

AU2193301

chr14:
102844876-102844876

G

T

intronic

De novo

-

Trost2022 G

TECPR2

1-0381-003

chr14:
102877383-102877383

A

C

intronic

De novo

-

Yuen2017 G

TECPR2

2-1425-004

chr14:
102939708-102939708

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TECPR2

AU2697301

chr14:
102849149-102849149

G

A

intronic

De novo

-

Trost2022 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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