Variant Results

or

Results for "NOC2L"

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

NOC2L

5B577

chr1:
891297-891297

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NOC2L

7-0080-003

chr1:
881314-881324

CAGGCCTGAGG

CAGG

intronic

De novo

-

Yuen2017 G

NOC2L

SP0075901

chr1:
880358-880358

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G
Trost2022 G

NOC2L

AC01-0062-01

chr1:
881802-881802

C

T

exonic

De novo

nonsynonymous SNV

NM_015658

c.G1783A

p.V595I

16.59

1.66E-5

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

NOC2L

SP0066059

chr1:
889309-889309

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

NOC2L

SP0042412

chr1:
884049-884049

G

T

intronic

De novo

-

Fu2022 E

NOC2L

1-0533-003

chr1:
888854-888854

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NOC2L

12676.p1

chr1:
880107-880107

C

A

exonic

De novo

nonsynonymous SNV

NM_015658

c.G2217T

p.E739D

9.348

-

Satterstrom2020 E
Zhou2022 GE

NOC2L

6584

chr1:
880850-880850

G

A

intronic

De novo

-

Trost2022 G

NOC2L

SSC06174

chr1:
880107-880107

C

A

exonic

De novo

nonsynonymous SNV

NM_015658

c.G2217T

p.E739D

9.348

-

Trost2022 G

NOC2L

REACH000721

chr1:
894616-894616

G

A

exonic

nonsynonymous SNV

NM_015658

c.C5T

p.A2V

19.85

-

Zhou2022 GE

NOC2L

4-0108-003

chr1:
891605-891605

C

G

intronic

De novo

-

Trost2022 G

NOC2L

1-0548-003

chr1:
886099-886103

CACAG

C

intronic

De novo

-

Trost2022 G

NOC2L

MSSNG00042-003

chr1:
894892-894892

G

GACAC

upstream

De novo

-

Trost2022 G

NOC2L

14292.p1

chr1:
880850-880850

G

A

intronic

De novo

-

Satterstrom2020 E

NOC2L

SP0162034

chr1:
894596-894596

T

G

exonic

De novo

synonymous SNV

NM_015658

c.A25C

p.R9R

-

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
	More