Variant Results

or

Results for "NUTM1"

Variant Events: 41

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

NUTM1

2-1350-004

chr15:
34638929-34638929

C

CAAAAA

intronic

De novo

-

Trost2022 G

NUTM1

1-0188-003

chr15:
34638940-34638940

T

C

intronic

De novo

-

Trost2022 G

NUTM1

5-0134-003

chr15:
34638929-34638929

C

CAAAAA

intronic

De novo

-

Trost2022 G

NUTM1

2-1620-004

chr15:
34638929-34638929

C

CAAAAA

intronic

De novo

-

Trost2022 G

NUTM1

5-1009-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

2-1620-004

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

1-0455-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

JASD_Fam0049

chr15:
34649615-34649615

C

T

exonic

De novo

stopgain

NM_001284293
NM_001284292
NM_175741

c.C3376T
c.C3406T
c.C3322T

p.R1126X
p.R1136X
p.R1108X

41.0

-

Takata2018 E

NUTM1

2-0219-004

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

ASDFI_790

chr15:
34647243-34647243

C

G

exonic

De novo

nonsynonymous SNV

NM_001284293
NM_001284292
NM_175741

c.C1354G
c.C1384G
c.C1300G

p.Q452E
p.Q462E
p.Q434E

14.06

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NUTM1

2-0304-003

chr15:
34639065-34639065

C

CA

intronic

De novo

-

Trost2022 G

NUTM1

1-0188-003

chr15:
34638943-34638945

ATG

GCA

intronic

De novo

-

Trost2022 G

NUTM1

1-0188-003

chr15:
34638952-34638955

TTCG

CACA

intronic

De novo

-

Trost2022 G

NUTM1

mAGRE4987

chr15:
34648284-34648286

CAG

C

exonic

Paternal

frameshift deletion

NM_001284293
NM_001284292
NM_175741

c.2046_2047del
c.2076_2077del
c.1992_1993del

p.T682fs
p.T692fs
p.T664fs

-

4.14E-5

Cirnigliaro2023 G

NUTM1

mAGRE4986

chr15:
34648284-34648286

CAG

C

exonic

Paternal

frameshift deletion

NM_001284293
NM_001284292
NM_175741

c.2046_2047del
c.2076_2077del
c.1992_1993del

p.T682fs
p.T692fs
p.T664fs

-

4.14E-5

Cirnigliaro2023 G

NUTM1

1-0446-003

chr15:
34638786-34638793

AACTGCCT

GAGAAGCA

intronic

De novo

-

Trost2022 G

NUTM1

4-0010-003

chr15:
34638796-34638799

GCTT

TAGG

intronic

De novo

-

Trost2022 G

NUTM1

1-0455-003

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

1-0380-003

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

2-1433-003

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

3-0261-000

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

2-0286-004

chr15:
34638893-34638893

G

A

intronic

De novo

-

Trost2022 G

NUTM1

5-1009-003

chr15:
34638893-34638893

G

A

intronic

De novo

-

Trost2022 G

NUTM1

1-0446-003

chr15:
34638796-34638799

GCTT

TAGG

intronic

De novo

-

Trost2022 G

NUTM1

4-0073-003

chr15:
34638796-34638799

GCTT

TAGG

intronic

De novo

-

Trost2022 G

NUTM1

2-1318-004

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

2-0102-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

1-0201-004

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

3-0261-000

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

2-1620-004

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

5-1009-003

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

2-0286-004

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

2-0219-004

chr15:
34638899-34638905

ATGGCGT

GCGTGGAG

intronic

De novo

-

Trost2022 G

NUTM1

5-0134-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

2-1350-004

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

1-0555-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

1-0380-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

2-1433-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

1-0201-004

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

2-0286-004

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

intronic

De novo

-

Trost2022 G

NUTM1

5-0129-003

chr15:
34638912-34638919

CGTATGTC

TATCTCTA

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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