or
or
Exact

Results for "LRRIQ1"

Variant Events: 18

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     13154.p1chr12:
85626531-85626531
TGexonicDe novosynonymous SNVNM_001079910c.T5013Gp.L1671L9.596-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
LRRIQ1     74-0115chr12:
85605030-85605030
TCintronicDe novo--Michaelson2012 G
LRRIQ1     5-0004-003chr12:
85661051-85661053
CTTCintergenicDe novo--Yuen2017 G
LRRIQ1     7-0249-004chr12:
85639783-85639783
AGdownstreamDe novo--Yuen2017 G
LRRIQ1     AU4467302chr12:
85611492-85611492
AGintronicDe novo--Yuen2017 G
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     iHART2061chr12:
85547872-85547876
GGTGAGsplicingMaternalsplicing--Ruzzo2019 G
LRRIQ1     iHART2963chr12:
85492733-85492733
GAexonicPaternalstopgainNM_001079910c.G3170Ap.W1057X41.04.155E-5Ruzzo2019 G
LRRIQ1     11460.p1 Complex Event; expand row to view variants  De novostopgain, nonframeshift insertionNM_001079910
NM_001079910
c.612_613insAGAAAAGCGACATTG
c.611_612insAGAAAAGCGACATTG
p.E204delinsERKATL
p.E204delinsEEKRHX
--Ji2016 E
Krumm2015 E
LRRIQ1     2-1567-004chr12:
85503832-85503832
GAintronicDe novo--Yuen2017 G
LRRIQ1     AU4032306chr12:
85434609-85434609
CTintronicDe novo--Yuen2017 G
LRRIQ1     3-0111-000chr12:
85615364-85615364
GTintronicDe novo--Yuen2016 G
LRRIQ1     AU3763305chr12:
85619793-85619793
AGintronicDe novo--Yuen2017 G
LRRIQ1     A17chr12:
85647851-85647851
TCintergenicDe novo--Wu2018 G
LRRIQ1     1-0009-004chr12:
85637605-85637605
GTintronicDe novo--Yuen2017 G
LRRIQ1     2-1389-003chr12:
85468942-85468942
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LRRIQ1     AU047704chr12:
85521987-85521987
TAintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More