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Results for "LAMC1"

Variant Events: 25

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
LAMC1     35842chr1:
183086530-183086530
TCexonicDe novononsynonymous SNVNM_002293c.T1640Cp.I547T14.343.305E-5Fu2022 E
LAMC1     5-0111-003chr1:
183144064-183144064
AGintergenicDe novo--Yuen2017 G
LAMC1     2-0256-004chr1:
183083116-183083116
CGintronicDe novo--Yuen2017 G
LAMC1     AU4239301chr1:
183012289-183012289
GAintronicDe novo--Yuen2017 G
LAMC1     1-0104-004chr1:
183143895-183143895
AGintergenicDe novo--Yuen2017 G
LAMC1     1-0593-003chr1:
183101649-183101649
TCexonicDe novosynonymous SNVNM_002293c.T3681Cp.F1227F--Yuen2017 G
LAMC1     1-0028-003chr1:
183115533-183115533
TAdownstreamDe novo--Yuen2017 G
LAMC1     SJD_50chr1:
183094556-183094556
CTexonicMaternalnonsynonymous SNVNM_002293c.C2672Tp.T891I28.79.061E-5Toma2013 E
LAMC1     SP0036982chr1:
183093976-183093976
ACexonicDe novononsynonymous SNVNM_002293c.A2612Cp.N871T25.6-Fu2022 E
LAMC1     5-0061-003chr1:
183047454-183047454
AGintronicDe novo--Yuen2017 G
LAMC1     2-0198-004chr1:
183036085-183036085
ATintronicDe novo--Yuen2017 G
LAMC1     08C76266chr1:
183091331-183091331
TCexonicDe novosynonymous SNVNM_002293c.T2346Cp.A782A--Fu2022 E
Satterstrom2020 E
LAMC1     7-0249-003chr1:
183151941-183151941
TAintergenicDe novo--Yuen2017 G
LAMC1     1-0126-003chr1:
183063987-183063988
GTGintronicDe novo--Yuen2017 G
LAMC1     1-0986-003chr1:
183034050-183034050
CTintronicDe novo--Yuen2017 G
LAMC1     2-1107-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
LAMC1     1-0978-003chr1:
183098625-183098625
GAintronicDe novo--Yuen2017 G
LAMC1     AU031203chr1:
183106774-183106774
ATintronicDe novo-7.0E-4Yuen2017 G
LAMC1     1-0180-004chr1:
183055124-183055124
TGintronicDe novo--Yuen2017 G
LAMC1     1635002chr1:
183083645-183083645
CCAGAintronicDe novo--Satterstrom2020 E
LAMC1     A3chr1:
183077159-183077159
GAintronicDe novo--Wu2018 G
LAMC1     1-0606-003chr1:
183151043-183151043
CTintergenicDe novo--Yuen2017 G
LAMC1     11189.p1chr1:
183086530-183086530
TCexonicDe novononsynonymous SNVNM_002293c.T1640Cp.I547T14.343.305E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
LAMC1     2-0299-003chr1:
183044701-183044701
CTintronicDe novo--Yuen2017 G
LAMC1     AU056803chr1:
183118550-183118553
TGTCTintergenicDe 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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