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Results for "NOC4L"

Variant Events: 39

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     1-0010-005chr12:
132666694-132666694
GGTAintergenicDe novo--Yuen2017 G
NOC4L     1-0382-004chr12:
132666703-132666703
GGCAintergenicDe novo--Yuen2017 G
NOC4L     1-0186-004chr12:
132666723-132666723
GGTTintergenicDe novo--Yuen2017 G
NOC4L     2-1174-006chr12:
132666675-132666675
GGTintergenicDe novo--Yuen2017 G
NOC4L     1-0079-008chr12:
132666668-132666668
AAGintergenicDe novo--Yuen2017 G
NOC4L     1-0567-003chr12:
132666680-132666680
TTTGCAintergenicDe novo--Yuen2017 G
NOC4L     2-1562-003chr12:
132666728-132666728
GGTintergenicDe novo--Yuen2017 G
NOC4L     1-0534-003chr12:
132666649-132666649
GGTGTTintergenicDe novo--Yuen2017 G
NOC4L     1-0232-004chr12:
132666688-132666688
GGTGTGTintergenicDe novo--Yuen2017 G
NOC4L     2-0198-005chr12:
132666723-132666723
GGCGTGTGGTintergenicDe novo--Yuen2017 G
NOC4L     1-0467-005chr12:
132666668-132666668
AAGintergenicDe novo--Yuen2017 G
NOC4L     2-1366-003chr12:
132666685-132666685
TTGTGCintergenicDe novo--Yuen2017 G
NOC4L     AU3874302chr12:
132674026-132674026
ATintergenicDe novo--Yuen2017 G
NOC4L     1-0553-003chr12:
132666718-132666718
TTGGCintergenicDe novo--Yuen2017 G
NOC4L     1-0197-003chr12:
132666714-132666714
GGTATTintergenicDe novo--Yuen2017 G
NOC4L     5-0017-003chr12:
132666718-132666718
TTGGCintergenicDe novo--Yuen2017 G
NOC4L     1-0271-003chr12:
132666718-132666718
TTGGCintergenicDe novo--Yuen2017 G
NOC4L     1-0141-003chr12:
132666723-132666723
GGTintergenicDe novo--Yuen2017 G
NOC4L     SP0008074chr12:
132632522-132632522
CTexonicDe novononsynonymous SNVNM_024078c.C701Tp.A234V11.561.018E-5Feliciano2019 E
NOC4L     1-0112-004chr12:
132666619-132666619
GGTGTGTATTGCAintergenicDe novo--Yuen2017 G
NOC4L     1-0272-003chr12:
132666705-132666705
GGCGTGTGGTintergenicDe novo--Yuen2017 G
NOC4L     1-0186-005chr12:
132666723-132666723
GGTTintergenicDe novo--Yuen2017 G
NOC4L     1-0004-003chr12:
132666614-132666614
AATintergenicDe novo--Yuen2017 G
NOC4L     2-0307-004chr12:
132666681-132666681
TCintergenicDe novo--Yuen2017 G
NOC4L     2-1486-003chr12:
132646115-132646121
TCCGCCCTCCintergenicDe novo--Yuen2017 G
NOC4L     08C72689chr12:
132636624-132636624
CAintronicDe novo--Satterstrom2020 E
NOC4L     3E480chr12:
132633449-132633449
CAintronicDe novo--Satterstrom2020 E
NOC4L     1-0289-003chr12:
132666712-132666712
GGTTintergenicDe novo--Yuen2017 G
NOC4L     1-0010-003chr12:
132666675-132666675
GGTintergenicDe novo--Yuen2017 G
NOC4L     1-0405-003chr12:
132666723-132666723
GGTTintergenicDe novo--Yuen2017 G
NOC4L     1-0763-004chr12:
132666728-132666728
GGTintergenicDe novo--Yuen2017 G
NOC4L     434-06-106903chr12:
132633105-132633105
CTintronicDe novo--Satterstrom2020 E
NOC4L     1-0045-003chr12:
132666680-132666680
TTTGCAintergenicDe novo--Yuen2017 G
NOC4L     1-0354-003chr12:
132666658-132666658
GGTCintergenicDe novo--Yuen2017 G
NOC4L     1-0059-003chr12:
132666718-132666718
TTTGTGTGTGTGTCintergenicDe novo--Yuen2017 G
NOC4L     1-0305-004chr12:
132666723-132666723
GGTTintergenicDe novo--Yuen2017 G
NOC4L     11002.p1chr12:
132638976-132638976
GAintergenicDe novo--Turner2016 G
NOC4L     11002.p1chr12:
132638978-132638978
GCintergenicDe novo--Turner2016 G
NOC4L     2-1715-004chr12:
132666685-132666685
TTTTGGintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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