Variant Results

or

Results for "TGM1"

Variant Events: 12

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

TGM1

AU054103

chr14:
24724494-24724494

C

G

intronic

De novo

-

Yuen2017 G

TGM1

AC02-1113-01

chr14:
24724606-24724606

G

A

exonic

De novo

nonsynonymous SNV

NM_000359

c.C1609T

p.R537W

15.78

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

TGM1

09C86700

chr14:
24731032-24731032

C

CG

exonic

De novo

frameshift insertion

NM_000359

c.376dupC

p.R126fs

-

DeRubeis2014 E
Kosmicki2017 E

TGM1

iHART3242

chr14:
24729019-24729019

T

C

splicing

Paternal

splicing

18.37

3.0E-4

Ruzzo2019 G

TGM1

iHART3240

chr14:
24729019-24729019

T

C

splicing

Paternal

splicing

18.37

3.0E-4

Ruzzo2019 G

TGM1

09C83441

chr14:
24730982-24730982

G

A

exonic

De novo

nonsynonymous SNV

NM_000359

c.C427T

p.R143C

15.86

1.0E-4

Fu2022 E

TGM1

SP0036879

chr14:
24728926-24728926

C

T

exonic

De novo

nonsynonymous SNV

NM_000359

c.G968A

p.R323Q

29.5

8.819E-5

Fu2022 E

TGM1

SP0056923

chr14:
24731561-24731561

C

A

splicing

De novo

splicing

-

Fu2022 E

TGM1

SP0063873

chr14:
24724150-24724150

G

T

intronic

De novo

-

Fu2022 E

TGM1

SP0022189

chr14:
24728337-24728337

G

A

exonic

De novo

nonsynonymous SNV

NM_000359

c.C1103T

p.T368M

15.33

3.324E-5

Fu2022 E

TGM1

72-1245

chr14:
24724388-24724388

G

A

exonic

Inherited

nonsynonymous SNV

NM_000359

c.C1717T

p.R573W

13.56

4.945E-5

Patowary2019 E

TGM1

Cukier2014:37425

chr14:
24724663-24724663

C

T

exonic

Unknown

nonsynonymous SNV

NM_000359

c.G1552A

p.V518M

20.1

0.0104

Cukier2014 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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