Variant Results

or

Results for "TGM7"

Variant Events: 11

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

TGM7

08C77056

chr15:
43579744-43579744

C

T

exonic

De novo

nonsynonymous SNV

NM_052955

c.G682A

p.A228T

26.6

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TGM7

iHART3249

chr15:
43579747-43579749

TCA

T

exonic

Paternal

frameshift deletion

NM_052955

c.677_678del

p.V226fs

-

Ruzzo2019 G

TGM7

MSSNG00423-004

chr15:
43569009-43569009

C

A

intronic

De novo

-

Trost2022 G

TGM7

MSSNG00423-004

chr15:
43578165-43578165

G

C

intronic

De novo

-

Trost2022 G

TGM7

949_15au

chr15:
43579797-43579797

G

A

exonic

De novo

nonsynonymous SNV

NM_052955

c.C629T

p.A210V

11.29

-

Fu2022 E

TGM7

mAGRE4676

chr15:
43571418-43571422

TCGTC

T

exonic

Paternal

frameshift deletion

NM_052955

c.1732_1735del

p.D578fs

-

Cirnigliaro2023 G

TGM7

2-0733-003

chr15:
43592271-43592271

G

A

intronic

De novo

-

Trost2022 G

TGM7

AU3861301

chr15:
43596325-43596325

G

A

intergenic

De novo

-

Yuen2017 G

TGM7

SP0070786

chr15:
43571999-43571999

T

C

exonic

De novo

nonsynonymous SNV

NM_052955

c.A1502G

p.E501G

2.237

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TGM7

EGAN00001101115

chr15:
43585134-43585134

A

C

exonic

De novo

nonsynonymous SNV

NM_052955

c.T212G

p.L71R

14.78

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TGM7

AU4013301

chr15:
43579747-43579749

TCA

T

exonic

Paternal

frameshift deletion

NM_052955

c.677_678del

p.V226fs

-

Cirnigliaro2023 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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