Variant Results

or

or

Results for "NMT2"

Variant Events: 20

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

NMT2

AU2139301

chr10:
15204134-15204134

C

T

intronic

De novo

-

-

Yuen2017 G

NMT2

2-1277-003

chr10:
15191257-15191257

C

CACCATCATCACCATTATCATCACTGTCATCACCACT

intronic

De novo

-

-

Yuen2017 G

NMT2

AU3506303

chr10:
15148551-15148551

T

G

UTR3

De novo

-

-

Yuen2017 G

NMT2

2-1292-004

chr10:
15224635-15224635

T

A

intergenic

De novo

-

-

Yuen2017 G

NMT2

SP0046116

chr10:
15151111-15151114

ATTC

A

UTR3

De novo

-

-

Fu2022 E
Trost2022 G

NMT2

1-0104-003

chr10:
15235708-15235708

C

T

intergenic

De novo

-

-

Yuen2017 G

NMT2

SSC05173

chr10:
15183471-15183471

A

T

exonic

De novo

nonsynonymous SNV

NM_001308295
NM_004808

c.T114A
c.T196A

p.S38R
p.S66T

14.97

-

Fu2022 E
Lim2017 E
Trost2022 G

NMT2

12539.p1

chr10:
15183471-15183471

A

T

exonic

De novo

nonsynonymous SNV

NM_001308295
NM_004808

c.T114A
c.T196A

p.S38R
p.S66T

14.97

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

NMT2

2-1361-003

chr10:
15168943-15168943

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NMT2

3-0405-000

chr10:
15163009-15163009

G

T

intronic

De novo

-

-

Trost2022 G

NMT2

REACH000173

chr10:
15167911-15167911

G

A

intronic

De novo

-

-

Trost2022 G

NMT2

AU2504301

chr10:
15155839-15155839

A

G

intronic

De novo

-

-

Trost2022 G

NMT2

1-0455-004

chr10:
15191257-15191257

C

CATCATCACCACCATTACCATCATCATCACTGTCATCACCACT

intronic

De novo

-

-

Yuen2017 G

NMT2

2-0296-004

chr10:
15200650-15200650

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NMT2

7-0095-003

chr10:
15191236-15191238

TGC

GAT

intronic

De novo

-

-

Trost2022 G

NMT2

2-1796-003

chr10:
15201674-15201674

G

A

intronic

De novo

-

-

Trost2022 G

NMT2

7-0095-003

chr10:
15191226-15191227

CT

TC

intronic

De novo

-

-

Trost2022 G

NMT2

7-0095-003

chr10:
15191232-15191232

T

C

intronic

De novo

-

-

Trost2022 G

NMT2

MSSNG00072-003

chr10:
15175695-15175695

C

T

intronic

De novo

-

-

Trost2022 G

NMT2

1-0253-004

chr10:
15191164-15191166

CTG

TCA

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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