Variant Results

or

Results for "NSUN7"

Variant Events: 13

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

NSUN7

mAGRE1342

chr4:
40810945-40810945

C

T

exonic

Paternal

stopgain

NM_024677

c.C2146T

p.R716X

40.0

-

Cirnigliaro2023 G

NSUN7

mAGRE1339

chr4:
40810945-40810945

C

T

exonic

Paternal

stopgain

NM_024677

c.C2146T

p.R716X

40.0

-

Cirnigliaro2023 G

NSUN7

PN400213

chr4:
40810826-40810828

ACT

A

exonic

Inherited

frameshift deletion

NM_024677

c.2028_2029del

p.Y676fs

-

Leblond2019 E

NSUN7

iHART1342

chr4:
40810945-40810945

C

T

exonic

Paternal

stopgain

NM_024677

c.C2146T

p.R716X

40.0

-

Ruzzo2019 G

NSUN7

iHART1339

chr4:
40810945-40810945

C

T

exonic

Paternal

stopgain

NM_024677

c.C2146T

p.R716X

40.0

-

Ruzzo2019 G

NSUN7

1-0627-007

chr4:
40796337-40796337

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NSUN7

SSC00624

chr4:
40762471-40762471

A

C

exonic

De novo

nonsynonymous SNV

NM_024677

c.A319C

p.I107L

16.57

-

Fu2022 E
Lim2017 E
Trost2022 G

NSUN7

MSSNG00256-004

chr4:
40805446-40805446

C

T

intronic

De novo

-

Trost2022 G

NSUN7

3-0476-000

chr4:
40806653-40806653

T

C

intronic

De novo

-

Trost2022 G

NSUN7

4-0062-003

chr4:
40781873-40781875

GTA

TAT

intronic

De novo

-

Trost2022 G

NSUN7

11581.p1

chr4:
40762471-40762471

A

C

exonic

De novo

nonsynonymous SNV

NM_024677

c.A319C

p.I107L

16.57

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NSUN7

MSSNG00256-003

chr4:
40805446-40805446

C

T

intronic

De novo

-

Trost2022 G

NSUN7

1-0271-003

chr4:
40754815-40754820

TATATT

GAAAAA

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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