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Results for "LRRIQ1"

Variant Events: 47

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
LRRIQ1     1-0288-004chr12:
85530896-85530896
AGintronicDe novo--Trost2022 G
LRRIQ1     AU3790302chr12:
85450309-85450309
CTexonicMaternalstopgainNM_001079910c.C1738Tp.Q580X21.8-Cirnigliaro2023 G
LRRIQ1     3-0090-001chr12:
85543504-85543504
GAintronicDe novo--Trost2022 G
LRRIQ1     13154.p1chr12:
85626531-85626531
TGexonicDe novosynonymous SNVNM_001079910c.T5013Gp.L1671L9.596-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
LRRIQ1     74-0115chr12:
85605030-85605030
TCintronicDe novo--Michaelson2012 G
LRRIQ1     MSSNG00258-003chr12:
85517127-85517127
ACintronicDe novo--Trost2022 G
LRRIQ1     3-0199-000chr12:
85530402-85530402
GAintronicDe novo--Trost2022 G
LRRIQ1     1033chr12:
85498091-85498091
CTintronicDe novo--Trost2022 G
LRRIQ1     1-0644-003chr12:
85513981-85513981
TCintronicDe novo--Trost2022 G
LRRIQ1     10-0005-003chr12:
85484509-85484509
GAintronicDe novo--Trost2022 G
LRRIQ1     REACH000650chr12:
85493268-85493268
ATintronicDe novo--Trost2022 G
LRRIQ1     MSSNG00359-003chr12:
85601165-85601165
TCintronicDe novo--Trost2022 G
LRRIQ1     mAGRE2061chr12:
85547872-85547876
GGTGAGsplicingMaternalsplicing--Cirnigliaro2023 G
LRRIQ1     11460.p1 Complex Event; expand row to view variants  De novononframeshift insertion, stopgainNM_001079910
NM_001079910
c.612_613insAGAAAAGCGACATTG
c.611_612insAGAAAAGCGACATTG
p.E204delinsERKATL
p.E204delinsEEKRHX
--Ji2016 E
Krumm2015 E
Zhou2022 GE
LRRIQ1     2-1567-004chr12:
85503832-85503832
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRRIQ1     REACH000086chr12:
85568519-85568519
GAintronicDe novo--Trost2022 G
LRRIQ1     mAGRE5420chr12:
85521776-85521776
CTexonicPaternalstopgainNM_001079910c.C4174Tp.R1392X40.02.0E-4Cirnigliaro2023 G
LRRIQ1     REACH000086chr12:
85568521-85568521
GAintronicDe novo--Trost2022 G
LRRIQ1     mAGRE2963chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Cirnigliaro2023 G
LRRIQ1     AU2320301chr12:
85548324-85548324
TGintronicDe novo--Trost2022 G
LRRIQ1     mAGRE2962chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Cirnigliaro2023 G
LRRIQ1     MSSNG00002-003chr12:
85549488-85549488
CTintronicDe novo--Trost2022 G
LRRIQ1     mAGRE2959chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Cirnigliaro2023 G
LRRIQ1     1-0009-004chr12:
85637605-85637605
GTintronicDe novo--Trost2022 G
Yuen2017 G
LRRIQ1     13154_p1chr12:
85626531-85626531
TGexonicDe novosynonymous SNVNM_001079910c.T5013Gp.L1671L9.596-Fu2022 E
LRRIQ1     GEA488chr12:
85517967-85517967
AGexonicDe novononsynonymous SNVNM_001079910c.A3677Gp.D1226G3.862-Fu2022 E
LRRIQ1     5-0004-003chr12:
85661051-85661053
CTTCintergenicDe novo--Yuen2017 G
LRRIQ1     7-0249-004chr12:
85639783-85639783
AGdownstreamDe novo--Trost2022 G
Yuen2017 G
LRRIQ1     SSC02557chr12:
85441181-85441181
AAAGAAAAGCGACATTGexonicDe novostopgainNM_001079910c.611_612insAGAAAAGCGACATTGp.E204delinsEEKRHX--Fu2022 E
LRRIQ1     AU4467302chr12:
85611492-85611492
AGintronicDe novo--Yuen2017 G
LRRIQ1     TRE_1015chr12:
85446007-85446009
AAGAexonicDe novoframeshift deletionNM_001079910c.732_733delp.K244fs--Fu2022 E
LRRIQ1     iHART2959chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Ruzzo2019 G
LRRIQ1     iHART2962chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Ruzzo2019 G
LRRIQ1     13096.p1chr12:
85449682-85449682
GAexonicnonsynonymous SNVNM_001079910c.G1111Ap.V371M0.266-Zhou2022 GE
LRRIQ1     iHART2061chr12:
85547872-85547876
GGTGAGsplicingMaternalsplicing--Ruzzo2019 G
LRRIQ1     iHART2963chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Ruzzo2019 G
LRRIQ1     AU4032306chr12:
85434609-85434609
CTintronicDe novo--Yuen2017 G
LRRIQ1     SP0010319chr12:
85449610-85449610
GAexonicDe novononsynonymous SNVNM_001079910c.G1039Ap.E347K13.92-Trost2022 G
Zhou2022 GE
LRRIQ1     3-0111-000chr12:
85615364-85615364
GTintronicDe novo--Yuen2016 G
LRRIQ1     SP0062728chr12:
85518192-85518192
ATexonicDe novononsynonymous SNVNM_001079910c.A3902Tp.D1301V11.99-Fu2022 E
Trost2022 G
Zhou2022 GE
LRRIQ1     AU3763305chr12:
85619793-85619793
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRIQ1     A17chr12:
85647851-85647851
TCintergenicDe novo--Wu2018 G
LRRIQ1     SP0035148chr12:
85439837-85439837
ACexonicDe novononsynonymous SNVNM_001079910c.A376Cp.K126Q2.96-Fu2022 E
LRRIQ1     2-1389-003chr12:
85468942-85468942
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRRIQ1     AU047704chr12:
85521987-85521987
TAintronicDe novo--Trost2022 G
Yuen2017 G
LRRIQ1     SP0080202chr12:
85450361-85450361
TGexonicDe novostopgainNM_001079910c.T1790Gp.L597X24.4-Fu2022 E
Trost2022 G
Zhou2022 GE
LRRIQ1     MSSNG00064-003chr12:
85480764-85480764
CTintronicDe novo--Trost2022 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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