or
or
Exact

Results for "LRCH4"

Variant Events: 12

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
LRCH4     SP0034655chr7:
100179690-100179690
CTexonicDe novononsynonymous SNVNM_001289934
NM_002319
c.G466A
c.G466A
p.G156S
p.G156S
8.2692.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
LRCH4     11502.p1chr7:
100183600-100183600
CTexonicDe novononsynonymous SNVNM_001289934
NM_002319
c.G124A
c.G124A
p.V42M
p.V42M
22.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
LRCH4     AU3368303chr7:
100172811-100172811
AGexonicDe novosynonymous SNVNM_002319c.T1971Cp.S657S--Trost2022 G
Yuen2017 G
Zhou2022 GE
LRCH4     11502_p1chr7:
100183600-100183600
CTexonicDe novononsynonymous SNVNM_001289934
NM_002319
c.G124A
c.G124A
p.V42M
p.V42M
22.5-Fu2022 E
LRCH4     mAGRE1259chr7:
100174354-100174355
GTGexonicMaternalframeshift deletionNM_001289934
NM_002319
c.1514delA
c.1514delA
p.N505fs
p.N505fs
--Cirnigliaro2023 G
LRCH4     mAGRE1257chr7:
100174354-100174355
GTGexonicMaternalframeshift deletionNM_001289934
NM_002319
c.1514delA
c.1514delA
p.N505fs
p.N505fs
--Cirnigliaro2023 G
LRCH4     mAGRE5247chr7:
100174316-100174316
CTsplicingMaternalsplicing12.88-Cirnigliaro2023 G
LRCH4     iHART1257chr7:
100174354-100174355
GTGexonicMaternalframeshift deletionNM_001289934
NM_002319
c.1514delA
c.1514delA
p.N505fs
p.N505fs
--Ruzzo2019 G
LRCH4     mAGRE5246chr7:
100174316-100174316
CTsplicingMaternalsplicing12.88-Cirnigliaro2023 G
LRCH4     iHART1259chr7:
100174354-100174355
GTGexonicMaternalframeshift deletionNM_001289934
NM_002319
c.1514delA
c.1514delA
p.N505fs
p.N505fs
--Ruzzo2019 G
LRCH4     SP0082143chr7:
100173706-100173706
ACintronicDe novo--Fu2022 E
LRCH4     SP0024703chr7:
100174382-100174382
CTexonicDe novononsynonymous SNVNM_001289934
NM_002319
c.G1487A
c.G1487A
p.R496Q
p.R496Q
10.77-Fu2022 E
Trost2022 G
Zhou2022 GE
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