Variant Results

or

or

Results for "TCERG1"

Variant Events: 15

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

TCERG1

2-1296-003

chr5:
145860112-145860112

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TCERG1

SP0025322

chr5:
145850265-145850265

C

CG

exonic

De novo

frameshift insertion

NM_001040006
NM_006706

c.1404dupG
c.1467dupG

p.T468fs
p.T489fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TCERG1

1-0051-004

chr5:
145851523-145851523

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TCERG1

4-0064-004

chr5:
145884569-145884581

ACTGCACTCCAGC

GG

intronic

De novo

-

-

Trost2022 G

TCERG1

7-0288-003

chr5:
145887251-145887251

T

C

intronic

De novo

-

-

Trost2022 G

TCERG1

AU060703

chr5:
145841062-145841062

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TCERG1

SP0028457

chr5:
145878067-145878067

C

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

TCERG1

4-0062-003

chr5:
145850258-145850259

AT

A

exonic

De novo

frameshift deletion

NM_001040006
NM_006706

c.1397delT
c.1460delT

p.M466fs
p.M487fs

-

-

Trost2022 G

TCERG1

SP0144495

chr5:
145878145-145878145

T

G

exonic

De novo

nonsynonymous SNV

NM_001040006
NM_006706

c.T2215G
c.T2278G

p.F739V
p.F760V

23.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TCERG1

4-0064-003

chr5:
145884569-145884581

ACTGCACTCCAGC

GG

intronic

De novo

-

-

Trost2022 G

TCERG1

SP0091856

chr5:
145878307-145878307

A

G

intronic

De novo

-

-

Fu2022 E

TCERG1

SP0365127

chr5:
145843307-145843307

G

A

exonic

nonsynonymous SNV

NM_001040006
NM_006706

c.G1086A
c.G1086A

p.M362I
p.M362I

25.4

-

Zhou2022 GE

TCERG1

AU3728301

chr5:
145855257-145855257

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TCERG1

20574-32342

chr5:
145847922-145847926

TAGTC

T

exonic

frameshift deletion

NM_006706

c.1155_1158del

p.I385fs

-

-

Callaghan2019 G

TCERG1

SP0060727

chr5:
145863193-145863193

G

A

splicing

splicing

18.73

-

Zhou2022 GE

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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