Variant Results

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Results for "TOGARAM2"

Variant Events: 16

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

TOGARAM2

133341

chr2:
29247086-29247086

G

A

exonic

nonsynonymous SNV

NM_199280

c.G1699A

p.D567N

31.0

Woodbury-Smith2022 E

TOGARAM2

7-0049-003

chr2:
29231090-29231090

C

T

intronic

De novo

-

-

Trost2022 G

TOGARAM2

2-1359-004

chr2:
29208255-29208255

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TOGARAM2

MSSNG00344-003

chr2:
29220400-29220400

G

C

intronic

De novo

-

-

Trost2022 G

TOGARAM2

2-1342-003

chr2:
29211775-29211775

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TOGARAM2

SMHC02129s000

chr2:
29240811-29240811

G

A

exonic

De novo

nonsynonymous SNV

NM_199280

c.G1349A

p.R450H

12.43

Yuan2023 E

TOGARAM2

1-0319-003

chr2:
29270770-29270771

GC

G

intronic

De novo

-

-

Trost2022 G

TOGARAM2

2-1790-003

chr2:
29264706-29264706

G

A

intronic

De novo

-

-

Trost2022 G

TOGARAM2

1-0458-004

chr2:
29272249-29272258

CTGGGCTGCT

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TOGARAM2

SP0125410

chr2:
29268127-29268127

A

C

intronic

De novo

-

-

Fu2022 E

TOGARAM2

1-1221-003

chr2:
29271345-29271345

C

A

intronic

De novo

-

-

Trost2022 G

TOGARAM2

iHART1029

chr2:
29240771-29240771

C

CCCAG

exonic

Maternal

frameshift insertion

NM_199280

c.1309_1310insCCAG

p.P437fs

-

-

Ruzzo2019 G

TOGARAM2

mAGRE1029

chr2:
29240771-29240771

C

CCCAG

exonic

Maternal

frameshift insertion

NM_199280

c.1309_1310insCCAG

p.P437fs

-

-

Cirnigliaro2023 G

TOGARAM2

1-0246-005

chr2:
29227684-29227684

T

TGTATGTGTACATGTGTGAGTGCATGTGTGTGAGTGC

intronic

De novo

-

-

Yuen2017 G

TOGARAM2

Wang2023:638

chr2:
29258377-29258377

A

C

exonic

De novo

nonsynonymous SNV

NM_199280

c.A2273C

p.Q758P

8.088

-

Wang2023 E

TOGARAM2

5-1008-003

chr2:
29259465-29259465

C

T

exonic

De novo

nonsynonymous SNV

NM_199280

c.C2477T

p.A826V

31.0

Trost2022 G
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
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