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Results for "IQSEC1"

Variant Events: 22

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
IQSEC1     1-0218-003chr3:
13135075-13135075
CTintergenicDe novo--Yuen2017 G
IQSEC1     AU4072303chr3:
13250565-13250565
GAintergenicDe novo--Yuen2017 G
IQSEC1     3-0185-000chr3:
13222497-13222497
CTintergenicDe novo--Yuen2017 G
IQSEC1     5-0040-003chr3:
13085005-13085005
CGintronicDe novo--Yuen2017 G
IQSEC1     AU4235302chr3:
13115108-13115108
GAupstreamDe novo--Yuen2017 G
IQSEC1     AU4079302chr3:
13279030-13279030
GAintergenicDe novo--Yuen2017 G
IQSEC1     2-0149-005chr3:
12940580-12940580
GCUTR3De novo--Yuen2017 G
IQSEC1     1-0395-003chr3:
13197403-13197403
AGintergenicDe novo--Yuen2017 G
IQSEC1     AU2019302chr3:
13151534-13151534
CTintergenicDe novo--Yuen2017 G
IQSEC1     1-0489-003chr3:
13121272-13121272
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
IQSEC1     2-0318-003chr3:
13157652-13157652
CTintergenicDe novo--Yuen2017 G
IQSEC1     1-0555-003chr3:
13018183-13018183
TGintronicDe novo--Yuen2017 G
IQSEC1     14370.p1chr3:
13054090-13054090
GAintronicDe novo--Turner2016 G
IQSEC1     2-1521-003chr3:
13135668-13135668
ACintergenicDe novo--Yuen2017 G
IQSEC1     MT_109chr3:
12955034-12955034
CTexonicPaternalnonsynonymous SNVNM_001134382
NM_014869
c.G2210A
c.G2252A
p.R737H
p.R751H
32.08.734E-6Toma2013 E
IQSEC1     11679.p1chr3:
13090241-13090241
GAintronicUnknown--Werling2018 G
IQSEC1     A5chr3:
12984461-12984461
CTintronicDe novo--Wu2018 G
IQSEC1     1-0627-005chr3:
12939228-12939228
CTUTR3De novo--Yuen2017 G
IQSEC1     1-0395-004chr3:
13197403-13197403
AGintergenicDe novo--Yuen2017 G
IQSEC1     2-1264-003chr3:
13328644-13328644
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
IQSEC1     iHART2879chr3:
12940921-12940921
CAexonicMaternalstopgainNM_014869c.G2860Tp.E954X42.0-Ruzzo2019 G
IQSEC1     iHART2878chr3:
12940921-12940921
CAexonicMaternalstopgainNM_014869c.G2860Tp.E954X42.0-Ruzzo2019 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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