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Results for "LRIG2"

Variant Events: 14

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
LRIG2     SP0160078chr1:
113666508-113666508
CTexonicDe novononsynonymous SNVNM_014813
NM_001312686
c.C2983T
c.C2674T
p.R995W
p.R892W
9.8924.282E-5Trost2022 G
LRIG2     4-0026-003chr1:
113628636-113628636
TCintronicDe novo--Trost2022 G
LRIG2     2-1266-003chr1:
113649561-113649561
ATintronicDe novo--Yuen2017 G
LRIG2     SP0046961chr1:
113655401-113655401
GAintronicDe novo--Fu2022 E
Trost2022 G
LRIG2     AU4228302chr1:
113733799-113733799
TCintergenicDe novo--Yuen2017 G
LRIG2     A30chr1:
113621602-113621602
GTintronicDe novo--Wu2018 G
LRIG2     1-0400-003chr1:
113646386-113646386
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRIG2     1-0150-004chr1:
113620130-113620130
TTTAintronicDe novo--Trost2022 G
Yuen2017 G
LRIG2     SMHC01003s000chr1:
113666508-113666508
CTexonicDe novononsynonymous SNVNM_014813
NM_001312686
c.C2983T
c.C2674T
p.R995W
p.R892W
9.8924.282E-5Yuan2023 E
LRIG2     mAGRE1739chr1:
113616044-113616045
CTCexonicPaternalframeshift deletionNM_014813c.17delTp.L6fs--Cirnigliaro2023 G
LRIG2     mAGRE1738chr1:
113616044-113616045
CTCexonicPaternalframeshift deletionNM_014813c.17delTp.L6fs--Cirnigliaro2023 G
LRIG2     AU3849302chr1:
113648762-113648762
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRIG2     AU4246304chr1:
113715585-113715585
CTintergenicDe novo--Yuen2017 G
LRIG2     AU3052301chr1:
113698286-113698286
GAintergenicDe novo--Yuen2017 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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