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Results for "AGL"

Variant Events: 41

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--Trost2022 G
Yuen2017 G
AGL     SP0065622chr1:
100378067-100378067		ACexonicDe novosynonymous SNVNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646		c.A3892C
c.A3943C
c.A3943C
c.A3943C
c.A3943C
c.A3895C		p.R1298R
p.R1315R
p.R1315R
p.R1315R
p.R1315R
p.R1299R		--Fu2022 E
Zhou2022 GE
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
Zhou2022 GE
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
Trost2022 G
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		--Fu2022 E
Lim2017 E
Trost2022 G
AGL     AU3997302chr1:
100338372-100338372		CTintronicDe novo--Trost2022 G
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--Trost2022 G
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--Trost2022 G
Yuen2017 G
AGL     4-0064-004chr1:
100340250-100340252		GCGTGACexonicDe novoframeshift substitutionNM_000645
NM_000028
NM_000642
NM_000643
NM_000644
NM_000646		c.915_917TGAC
c.966_968TGAC
c.966_968TGAC
c.966_968TGAC
c.966_968TGAC
c.918_920TGAC		N/A
N/A
N/A
N/A
N/A
N/A		--Trost2022 G
AGL     MSSNG00232-003chr1:
100332055-100332058		TATGTintronicDe novo--Trost2022 G
AGL     200675677_1082034783chr1:
100350117-100350117		AGintronicDe novo--Fu2022 E
AGL     4-0062-003chr1:
100342349-100342350		CTGAintronicDe novo--Trost2022 G
AGL     SP0143256chr1:
100340815-100340815		TGintronicDe novo--Trost2022 G
AGL     4-0062-003chr1:
100331196-100331196		TTTGintronicDe novo--Trost2022 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     3-0305-000chr1:
100319948-100319948		CTintronicDe novo--Trost2022 G
AGL     mAGRE5973chr1:
100316614-100316616		CAGCexonicPaternalframeshift deletionNM_000028
NM_000642
NM_000643
NM_000644		c.17_18del
c.17_18del
c.17_18del
c.17_18del		p.Q6fs
p.Q6fs
p.Q6fs
p.Q6fs		-4.944E-5Cirnigliaro2023 G
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     MT_37.3chr1:
100360054-100360054		CGintronicDe novo--Trost2022 G
AGL     7-0024-003chr1:
100342349-100342350		CTGAintronicDe novo--Trost2022 G
AGL     AU2975301chr1:
100363905-100363905		ATintronicDe novo--Yuen2017 G
AGL     AU2463301chr1:
100374895-100374895		GAintronicDe novo--Trost2022 G
AGL     Al-Mubarak2017:ASD-9chr1:
100327811-100327811		ATsplicingUnknownsplicing21.5-Al-Mubarak2017 E
AGL     AU2427303chr1:
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-6Cirnigliaro2023 G
AGL     AU2427302chr1:
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-6Cirnigliaro2023 G
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--Trost2022 G
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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