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Results for "LAMA3"

Variant Events: 37

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
LAMA3     AGG0064chr18:
21474301-21474301
ACexonicDe novononsynonymous SNVNM_000227
NM_001127718
NM_001127717
NM_198129
c.A623C
c.A623C
c.A5450C
c.A5450C
p.E208A
p.E208A
p.E1817A
p.E1817A
13.72-Satterstrom2020 E
LAMA3     AU3779304chr18:
21548823-21548823
ACintergenicDe novo--Yuen2017 G
LAMA3     Li2017:16119chr18:
21492675-21492675
GTexonicUnknownnonsynonymous SNVNM_001127718
NM_000227
NM_001127717
NM_198129
c.G2164T
c.G2332T
c.G6991T
c.G7159T
p.V722F
p.V778F
p.V2331F
p.V2387F
22.5-Li2017 T
LAMA3     2-1242-003chr18:
21288284-21288284
CGintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA3     2-1389-003chr18:
21364709-21364709
AGintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA3     A11055-1chr18:
21453123-21453123
CTexonicUnknownstopgainNM_000227
NM_001127718
c.C115T
c.C115T
p.Q39X
p.Q39X
36.0-Li2017 T
LAMA3     1-0296-003chr18:
21287210-21287210
TCintronicDe novo--Yuen2017 G
LAMA3     2-1317-003chr18:
21433842-21433842
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA3     2-1258-003chr18:
21483951-21483951
ATexonicDe novostopgainNM_001127718
NM_000227
NM_001127717
NM_198129
c.A1378T
c.A1546T
c.A6205T
c.A6373T
p.K460X
p.K516X
p.K2069X
p.K2125X
48.0-Yuen2015 G
LAMA3     AU3881302chr18:
21387097-21387097
TGintronicDe novo--Yuen2017 G
LAMA3     AU3903302chr18:
21431140-21431140
GTintronicDe novo--Yuen2017 G
LAMA3     2-1182-003chr18:
21342175-21342175
GAintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA3     AU065304chr18:
21391486-21391486
AGintronicDe novo--Yuen2017 G
LAMA3     2-1131-003chr18:
21488355-21488355
GAintronicDe novo--Yuen2017 G
LAMA3     2-1408-004chr18:
21548809-21548809
GAintergenicDe novo--Yuen2017 G
LAMA3     AU4473301chr18:
21409068-21409068
ATintronicDe novo--Yuen2017 G
LAMA3     Li2017:17425chr18:
21474268-21474268
TTAAexonicUnknownframeshift insertionNM_000227
NM_001127718
NM_001127717
NM_198129
c.590_591insAA
c.590_591insAA
c.5417_5418insAA
c.5417_5418insAA
p.I197fs
p.I197fs
p.I1806fs
p.I1806fs
--Li2017 T
LAMA3     AU3911301chr18:
21403267-21403271
CCACACCACACAintronicDe novo--Yuen2017 G
LAMA3     1-0300-003chr18:
21413707-21413707
GAintronicDe novo--Yuen2017 G
LAMA3     iHART1684chr18:
21419748-21419748
GAsplicingPaternalsplicing22.5-Ruzzo2019 G
LAMA3     iHART1685chr18:
21419748-21419748
GAsplicingPaternalsplicing22.5-Ruzzo2019 G
LAMA3     AU013Achr18:
21395209-21395209
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
LAMA3     14518.p1chr18:
21427428-21427428
CTexonicDe novononsynonymous SNVNM_001127717
NM_198129
c.C3932T
c.C3932T
p.P1311L
p.P1311L
10.843.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
LAMA3     A4chr18:
21316000-21316000
CTintronicDe novo--Wu2018 G
LAMA3     1-0604-003chr18:
21556452-21556452
CTintergenicDe novo--Yuen2017 G
LAMA3     Li2017:15042chr18:
21495339-21495339
CGexonicUnknownnonsynonymous SNVNM_001127718
NM_000227
NM_001127717
NM_198129
c.C2736G
c.C2904G
c.C7563G
c.C7731G
p.F912L
p.F968L
p.F2521L
p.F2577L
28.88.254E-6Li2017 T
LAMA3     1-0336-003chr18:
21458856-21458856
GAintronicDe novo--Yuen2017 G
LAMA3     iHART1339chr18:
21426430-21426431
ACAexonicMaternalframeshift deletionNM_001127717
NM_198129
c.3890delC
c.3890delC
p.T1297fs
p.T1297fs
--Ruzzo2019 G
LAMA3     Li2017:17508chr18:
21508596-21508596
GAexonicUnknownnonsynonymous SNVNM_001127718
NM_000227
NM_001127717
NM_198129
c.G3308A
c.G3476A
c.G8135A
c.G8303A
p.R1103Q
p.R1159Q
p.R2712Q
p.R2768Q
26.1-Li2017 T
LAMA3     2-1398-004chr18:
21480290-21480290
CTintronicDe novo--Yuen2017 G
LAMA3     2-1381-003chr18:
21412495-21412495
CTintronicDe novo--Yuen2017 G
LAMA3     3-0447-000chr18:
21280296-21280296
AGintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA3     A26chr18:
21461616-21461616
CTintronicDe novo--Wu2018 G
LAMA3     A9chr18:
21339789-21339789
GAintronicDe novo--Wu2018 G
LAMA3     A11chr18:
21453123-21453123
CTexonicDe novostopgainNM_000227
NM_001127718
c.C115T
c.C115T
p.Q39X
p.Q39X
36.0-Wu2018 G
LAMA3     SP0004280chr18:
21331038-21331038
AGexonicDe novononsynonymous SNVNM_001127717
NM_001302996
NM_198129
c.A841G
c.A841G
c.A841G
p.T281A
p.T281A
p.T281A
24.48.281E-6Feliciano2019 E
LAMA3     AU3911302chr18:
21396062-21396062
GAintronicDe 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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