Variant Results

or

Results for "NOC4L"

Variant Events: 45

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

NOC4L

1-0010-005

chr12:
132666694-132666694

G

GTA

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0382-004

chr12:
132666703-132666703

G

GCA

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0186-004

chr12:
132666723-132666723

G

GTT

intergenic

De novo

-

Yuen2017 G

NOC4L

2-1174-006

chr12:
132666675-132666675

G

GT

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0079-008

chr12:
132666668-132666668

A

AG

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0567-003

chr12:
132666680-132666680

T

TTGCA

intergenic

De novo

-

Yuen2017 G

NOC4L

2-1562-003

chr12:
132666728-132666728

G

GT

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0534-003

chr12:
132666649-132666649

G

GTGTT

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0232-004

chr12:
132666688-132666688

G

GTGTGT

intergenic

De novo

-

Yuen2017 G

NOC4L

2-0198-005

chr12:
132666723-132666723

G

GCGTGTGGT

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0467-005

chr12:
132666668-132666668

A

AG

intergenic

De novo

-

Yuen2017 G

NOC4L

2-1366-003

chr12:
132666685-132666685

T

TGTGC

intergenic

De novo

-

Yuen2017 G

NOC4L

AU3874302

chr12:
132674026-132674026

A

T

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0553-003

chr12:
132666718-132666718

T

TGGC

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0197-003

chr12:
132666714-132666714

G

GTATT

intergenic

De novo

-

Yuen2017 G

NOC4L

5-0017-003

chr12:
132666718-132666718

T

TGGC

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0271-003

chr12:
132666718-132666718

T

TGGC

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0141-003

chr12:
132666723-132666723

G

GT

intergenic

De novo

-

Yuen2017 G

NOC4L

SP0008074

chr12:
132632522-132632522

C

T

exonic

De novo

nonsynonymous SNV

NM_024078

c.C701T

p.A234V

11.56

1.018E-5

Feliciano2019 E

NOC4L

1-0112-004

chr12:
132666619-132666619

G

GTGTGTATTGCA

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0272-003

chr12:
132666705-132666705

G

GCGTGTGGT

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0186-005

chr12:
132666723-132666723

G

GTT

intergenic

De novo

-

Yuen2017 G

NOC4L

20-001813-17

chr12:
132633450-132633450

G

A

intronic

De novo

-

1.0E-4

Fu2022 E

NOC4L

1-0004-003

chr12:
132666614-132666614

A

AT

intergenic

De novo

-

Yuen2017 G

NOC4L

2-0307-004

chr12:
132666681-132666681

T

C

intergenic

De novo

-

Yuen2017 G

NOC4L

2-1486-003

chr12:
132646115-132646121

TCCGCCC

TCC

intergenic

De novo

-

Yuen2017 G

NOC4L

08C72689

chr12:
132636624-132636624

C

A

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

NOC4L

3E480

chr12:
132633449-132633449

C

A

intronic

De novo

-

Satterstrom2020 E

NOC4L

ASC_CA_135_A

chr12:
132633422-132633422

A

C

exonic

De novo

nonsynonymous SNV

NM_024078

c.A883C

p.T295P

18.06

-

Fu2022 E

NOC4L

1-0289-003

chr12:
132666712-132666712

G

GTT

intergenic

De novo

-

Yuen2017 G

NOC4L

113-07-107909

chr12:
132633435-132633435

A

ACCTCGGTGAGTGCTGCCGCCTCACTCATACCACACCCCTAATCC

exonic

De novo

frameshift insertion

NM_024078

c.896_897insCCTCGGTGAGTGCTGCCGCCTCACTCATACCACACCCCTAATCC

p.D299fs

-

1.0E-4

Fu2022 E

NOC4L

462-09-112063

chr12:
132633449-132633449

C

CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT

intronic

De novo

-

Fu2022 E

NOC4L

G01-GEA-219-HI

chr12:
132633431-132633431

T

C

exonic

De novo

nonsynonymous SNV

NM_024078

c.T892C

p.C298R

12.76

-

Fu2022 E

NOC4L

1-0010-003

chr12:
132666675-132666675

G

GT

intergenic

De novo

-

Yuen2017 G

NOC4L

SP0121770

chr12:
132636208-132636208

G

A

intronic

De novo

-

1.0E-4

Fu2022 E

NOC4L

1-0405-003

chr12:
132666723-132666723

G

GTT

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0763-004

chr12:
132666728-132666728

G

GT

intergenic

De novo

-

Yuen2017 G

NOC4L

434-06-106903

chr12:
132633105-132633105

C

T

intronic

De novo

-

Satterstrom2020 E

NOC4L

1-0045-003

chr12:
132666680-132666680

T

TTGCA

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0354-003

chr12:
132666658-132666658

G

GTC

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0059-003

chr12:
132666718-132666718

T

TTGTGTGTGTGTC

intergenic

De novo

-

Yuen2017 G

NOC4L

1-0305-004

chr12:
132666723-132666723

G

GTT

intergenic

De novo

-

Yuen2017 G

NOC4L

11002.p1

chr12:
132638976-132638976

G

A

intergenic

De novo

-

Turner2016 G

NOC4L

11002.p1

chr12:
132638978-132638978

G

C

intergenic

De novo

-

Turner2016 G

NOC4L

2-1715-004

chr12:
132666685-132666685

T

TTTGG

intergenic

De novo

-

Yuen2017 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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