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Results for "AGL"

Variant Events: 27

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
AGL     7-0095-003chr1:
100348425-100348425
GAintronicDe novo--Yuen2017 G
AGL     iHART2917chr1:
100353580-100353580
CTexonicMaternalstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C2677T
c.C2728T
c.C2728T
c.C2728T
c.C2728T
c.C2680T
p.R893X
p.R910X
p.R910X
p.R910X
p.R910X
p.R894X
43.08.254E-6Ruzzo2019 G
AGL     13039.p1chr1:
100366306-100366306
GAexonicDe novosynonymous SNVNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.G3426A
c.G3477A
c.G3477A
c.G3477A
c.G3477A
c.G3429A
p.Q1142Q
p.Q1159Q
p.Q1159Q
p.Q1159Q
p.Q1159Q
p.Q1143Q
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
AGL     iHART2918chr1:
100353580-100353580
CTexonicMaternalstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C2677T
c.C2728T
c.C2728T
c.C2728T
c.C2728T
c.C2680T
p.R893X
p.R910X
p.R910X
p.R910X
p.R910X
p.R894X
43.08.254E-6Ruzzo2019 G
AGL     2-1353-003chr1:
100346771-100346771
AGintronicDe novo--Yuen2016 G
Yuen2017 G
AGL     10C105657chr1:
100346771-100346771
AGintronicDe novo--Satterstrom2020 E
AGL     PN400371chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     SSC06472chr1:
100366306-100366306
GAexonicDe novosynonymous SNVNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.G3426A
c.G3477A
c.G3477A
c.G3477A
c.G3477A
c.G3429A
p.Q1142Q
p.Q1159Q
p.Q1159Q
p.Q1159Q
p.Q1159Q
p.Q1143Q
--Lim2017 E
AGL     AU3997302chr1:
100338372-100338372
CTintronicDe novo--Yuen2017 G
AGL     PN400417chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     PN400114chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     AU2089302chr1:
100341054-100341054
GTintronicDe novo--Yuen2017 G
AGL     PN400486chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     AU2035302chr1:
100424292-100424292
TCintergenicDe novo--Yuen2017 G
AGL     AU4176302chr1:
100340867-100340867
GTintronicDe novo--Yuen2017 G
AGL     AU2711303chr1:
100398147-100398147
TAintergenicDe novo--Yuen2017 G
AGL     PN400312chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     AU2035301chr1:
100424292-100424292
TCintergenicDe novo--Yuen2017 G
AGL     PN400518chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     AU2975301chr1:
100363905-100363905
ATintronicDe novo--Yuen2017 G
AGL     Al-Mubarak2017:ASD-9chr1:
100327811-100327811
ATsplicingUnknownsplicing21.5-Al-Mubarak2017 E
AGL     PN400119chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     AU056804chr1:
100350998-100350998
GAintronicDe novo--Yuen2017 G
AGL     PN400379chr1:
100343254-100343254
GAexonicUnknownnonsynonymous SNVNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.G1430A
c.G1481A
c.G1481A
c.G1481A
c.G1481A
c.G1433A
p.R477H
p.R494H
p.R494H
p.R494H
p.R494H
p.R478H
26.60.0089Leblond2019 E
AGL     PN400321chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
AGL     AU3716302chr1:
100403055-100403055
CTintergenicDe novo--Yuen2017 G
AGL     PN400554chr1:
100340950-100340950
CTexonicUnknownstopgainNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646
c.C1171T
c.C1222T
c.C1222T
c.C1222T
c.C1222T
c.C1174T
p.R391X
p.R408X
p.R408X
p.R408X
p.R408X
p.R392X
40.01.65E-5Leblond2019 E
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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