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Results for "NTNG1"

Variant Events: 28

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
NTNG1     1-0531-003chr1:
108002626-108002626
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NTNG1     2-1066-004chr1:
108094751-108094751
CTintergenicDe novo--Yuen2017 G
NTNG1     AU018010chr1:
107702448-107702448
CTintronicDe novo--Yuen2017 G
NTNG1     12412.p1chr1:
107693895-107693895
AGintronicDe novo--Werling2018 G
NTNG1     2-0296-003chr1:
107717637-107717637
AGintronicDe novo--Yuen2017 G
NTNG1     AU011021chr1:
107790047-107790047
TCintronicDe novo--Yuen2017 G
NTNG1     AU3840302chr1:
107983784-107983784
TCintronicDe novo--Yuen2017 G
NTNG1     AU4273304chr1:
107897673-107897673
AGintronicDe novo--Yuen2017 G
NTNG1     AU3903302chr1:
107695041-107695041
AGintronicDe novo--Yuen2017 G
NTNG1     AU3636301chr1:
107931804-107931804
CTintronicDe novo--Yuen2017 G
NTNG1     5-0055-004chr1:
107922932-107922932
TGintronicDe novo--Yuen2017 G
NTNG1     1-0497-003chr1:
107806693-107806705
CCTCTCTCTCTCTCCTCTCTCTCTintronicDe novo--Yuen2017 G
NTNG1     5028chr1:
107867061-107867061
CTexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917
c.C404T
c.C404T
c.C404T
c.C404T
p.T135I
p.T135I
p.T135I
p.T135I
22.4-Fu2022 E
NTNG1     AU2569303chr1:
107862364-107862364
GAintronicDe novo--Yuen2017 G
NTNG1     2-1281-003chr1:
107888868-107888868
TCintronicDe novo--Yuen2017 G
NTNG1     AU4487302chr1:
108057404-108057404
CGintergenicDe novo--Yuen2017 G
NTNG1     1-0054-004chr1:
108000159-108000159
ATintronicDe novo--Yuen2017 G
NTNG1     2-0304-003chr1:
107712342-107712342
CTintronicDe novo--Yuen2017 G
NTNG1     Lim2017:5028chr1:
107867061-107867061
CTexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917
c.C404T
c.C404T
c.C404T
c.C404T
p.T135I
p.T135I
p.T135I
p.T135I
22.4-Lim2017 E
NTNG1     AU074503chr1:
108057087-108057087
CGintergenicDe novo--Yuen2017 G
NTNG1     SP0140723chr1:
107867581-107867581
TGintronicDe novo--Fu2022 E
NTNG1     12532.p1chr1:
107691283-107691283
AGexonicDe novo, Mosaicnonsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917
c.A68G
c.A68G
c.A68G
c.A68G
p.Y23C
p.Y23C
p.Y23C
p.Y23C
19.13-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
NTNG1     11660.p1chr1:
107867061-107867061
CTexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917
c.C404T
c.C404T
c.C404T
c.C404T
p.T135I
p.T135I
p.T135I
p.T135I
22.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
NTNG1     2-1346-003chr1:
108060325-108060325
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NTNG1     2-1323-003chr1:
108047819-108047819
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NTNG1     1-0572-003chr1:
107967839-107967839
TGintronicDe novo--Yuen2017 G
NTNG1     2-1506-003chr1:
107822700-107822700
ATintronicDe novo--Yuen2017 G
NTNG1     2-1348-003chr1:
107936817-107936817
TCintronicDe 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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