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Results for "LAMA2"

Variant Events: 42

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
LAMA2     1-0490-003chr6:
129354755-129354755
GTintronicDe novo--Yuen2017 G
LAMA2     2-1345-003chr6:
129358962-129358962
TCintronicDe novo--Yuen2017 G
LAMA2     Li2017:23269chr6:
129475829-129475829
GAsplicingUnknownsplicing24.0-Li2017 T
LAMA2     1-0591-003chr6:
129329947-129329947
TCintronicDe novo--Yuen2017 G
LAMA2     2-1511-003chr6:
129552856-129552856
TCintronicDe novo--Yuen2017 G
LAMA2     Cukier2014:17342chr6:
129513850-129513850
TAexonicUnknownnonsynonymous SNVNM_000426
NM_001079823
c.T1634A
c.T1634A
p.L545Q
p.L545Q
21.40.0028Cukier2014 E
LAMA2     1-0636-003chr6:
129493072-129493072
ATintronicDe novo--Yuen2017 G
LAMA2     1-0863-003chr6:
129800815-129800815
CTintronicDe novo--Yuen2017 G
LAMA2     1-0454-003chr6:
129794002-129794002
ATintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA2     7-0044-003chr6:
129404554-129404554
GTintronicDe novo--Yuen2017 G
LAMA2     AU3866301chr6:
129573909-129573909
CTintronicDe novo--Yuen2017 G
LAMA2     7-0143-003chr6:
129671125-129671125
TCintronicDe novo--Yuen2017 G
LAMA2     1-0139-005chr6:
129806666-129806666
ACintronicDe novo--Yuen2017 G
LAMA2     1-0493-003chr6:
129399259-129399259
CTintronicDe novo--Yuen2017 G
LAMA2     1-0640-003chr6:
129841986-129841986
CAintergenicDe novo--Yuen2017 G
LAMA2     7-0161-003chr6:
129647015-129647015
CTintronicDe novo--Yuen2017 G
LAMA2     AU2123301chr6:
129674519-129674519
TAintronicDe novo--Yuen2017 G
LAMA2     AU4468301chr6:
129486470-129486470
ATintronicDe novo--Yuen2017 G
LAMA2     iHART1981chr6:
129649525-129649526
AGAexonicPaternalframeshift deletionNM_000426
NM_001079823
c.4280delG
c.4280delG
p.S1427fs
p.S1427fs
--Ruzzo2019 G
LAMA2     Li2017:20274chr6:
129837446-129837446
CAexonicUnknownnonsynonymous SNVNM_001079823
NM_000426
c.C9311A
c.C9323A
p.A3104D
p.A3108D
25.6-Li2017 T
LAMA2     5-0106-003chr6:
129397396-129397396
TGintronicDe novo--Yuen2017 G
LAMA2     AU3586303chr6:
129511578-129511578
AGintronicDe novo--Yuen2017 G
LAMA2     1-0048-003chr6:
129704744-129704744
TAintronicDe novo--Yuen2017 G
LAMA2     13788.p1chr6:
129828691-129828691
GAexonicMosaic, De novononsynonymous SNVNM_001079823
NM_000426
c.G8749A
c.G8761A
p.D2917N
p.D2921N
9.9952.0E-4Dou2017 E
Iossifov2014 E
Kosmicki2017 E
LAMA2     Li2017:20303chr6:
129498884-129498884
GAexonicUnknownnonsynonymous SNVNM_000426
NM_001079823
c.G1340A
c.G1340A
p.G447D
p.G447D
24.4-Li2017 T
LAMA2     2-0129-005chr6:
129811094-129811101
GACCTATTGintronicDe novo--Yuen2017 G
LAMA2     AU3154302chr6:
129364677-129364677
GAintronicDe novo--Yuen2017 G
LAMA2     AU3765302chr6:
129880946-129880946
GCintergenicDe novo--Yuen2017 G
LAMA2     2-1207-003chr6:
129785640-129785640
GAintronicDe novo-8.254E-6Yuen2016 G
Yuen2017 G
LAMA2     11879.p1chr6:
129612720-129612720
GAintronicDe novo--Satterstrom2020 E
LAMA2     2-1252-003chr6:
129870625-129870625
TCintergenicDe novo--Yuen2017 G
LAMA2     Li2017:15084chr6:
129722486-129722486
GTsplicingUnknownsplicing13.3-Li2017 T
LAMA2     Li2017:17490chr6:
129833556-129833556
GAexonicUnknownnonsynonymous SNVNM_001079823
NM_000426
c.G8894A
c.G8906A
p.R2965H
p.R2969H
24.68.247E-6Li2017 T
LAMA2     2-1231-003chr6:
129299425-129299425
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LAMA2     2-1220-003chr6:
129506567-129506567
AGintronicDe novo--Yuen2017 G
LAMA2     5-0087-003chr6:
129480304-129480304
GTintronicDe novo--Yuen2017 G
LAMA2     AU4056302chr6:
129311033-129311033
CTintronicDe novo--Yuen2017 G
LAMA2     AU012804chr6:
129584127-129584127
CTintronicDe novo--Yuen2017 G
LAMA2     1-0923-003chr6:
129315180-129315180
GAintronicDe novo--Yuen2017 G
LAMA2     08C78418chr6:
129785640-129785640
GAintronicDe novo-8.254E-6Satterstrom2020 E
LAMA2     NDAR_INVWV443KNU_wes1chr6:
129371158-129371158
GCexonicDe novononsynonymous SNVNM_000426
NM_001079823
c.G208C
c.G208C
p.V70L
p.V70L
34.0-Lim2017 E
LAMA2     14220.p1chr6:
129766764-129766764
GAintronicDe novo--Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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