or
or
Exact

Results for "LAMA4"

Variant Events: 20

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
LAMA4     AU4129303chr6:
112444128-112444128
GAintronicDe novo--Yuen2017 G
LAMA4     AU2019302chr6:
112502493-112502493
CTintronicDe novo--Yuen2017 G
LAMA4     3-0661-000chr6:
112516472-112516472
TCintronicDe novo--Yuen2017 G
LAMA4     SP0043581chr6:
112462089-112462089
GAexonicDe novononsynonymous SNVNM_001105206
NM_001105207
NM_002290
c.C2849T
c.C2828T
c.C2828T
p.P950L
p.P943L
p.P943L
25.62.474E-5Feliciano2019 E
LAMA4     SP0002974chr6:
112508688-112508688
GAexonicDe novosynonymous SNVNM_001105206
NM_001105207
NM_002290
c.C930T
c.C909T
c.C909T
p.H310H
p.H303H
p.H303H
4.654-Feliciano2019 E
LAMA4     AU1988301chr6:
112523428-112523428
CTintronicDe novo--Yuen2017 G
LAMA4     AU1988301chr6:
112528477-112528477
GCintronicDe novo--Yuen2017 G
LAMA4     SSC09344chr6:
112537598-112537598
CTexonicDe novononsynonymous SNVNM_001105206
NM_001105207
NM_002290
c.G268A
c.G268A
c.G268A
p.E90K
p.E90K
p.E90K
11.28.242E-6Lim2017 E
LAMA4     12224.p1chr6:
112508841-112508841
ATintronicDe novo--Satterstrom2020 E
LAMA4     iHART2070chr6:
112462593-112462593
CTexonicPaternalstopgainNM_001105206
NM_001105207
NM_002290
c.G2780A
c.G2759A
c.G2759A
p.W927X
p.W920X
p.W920X
44.0-Ruzzo2019 G
LAMA4     AU1988301chr6:
112533086-112533086
TCintronicDe novo--Yuen2017 G
LAMA4     iHART1403chr6:
112454089-112454090
ATAexonicPaternalframeshift deletionNM_001105206
NM_001105207
NM_002290
c.3699delA
c.3678delA
c.3678delA
p.I1233fs
p.I1226fs
p.I1226fs
--Ruzzo2019 G
LAMA4     iHART2072chr6:
112462593-112462593
CTexonicPaternalstopgainNM_001105206
NM_001105207
NM_002290
c.G2780A
c.G2759A
c.G2759A
p.W927X
p.W920X
p.W920X
44.0-Ruzzo2019 G
LAMA4     iHART2071chr6:
112462593-112462593
CTexonicPaternalstopgainNM_001105206
NM_001105207
NM_002290
c.G2780A
c.G2759A
c.G2759A
p.W927X
p.W920X
p.W920X
44.0-Ruzzo2019 G
LAMA4     13873.p1chr6:
112537598-112537598
CTexonicDe novononsynonymous SNVNM_001105206
NM_001105207
NM_002290
c.G268A
c.G268A
c.G268A
p.E90K
p.E90K
p.E90K
11.28.242E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
LAMA4     2-1507-003chr6:
112544790-112544790
ATintronicDe novo--Yuen2017 G
LAMA4     1-0329-004chr6:
112430853-112430853
GGTintronicDe novo--Yuen2017 G
LAMA4     1-0606-003chr6:
112499167-112499167
TAintronicDe novo--Yuen2017 G
LAMA4     2-1719-003chr6:
112531136-112531136
GAintronicDe novo--Yuen2017 G
LAMA4     G01-GEA-76-HIchr6:
112450092-112450092
ACintronicDe novo--Satterstrom2020 E
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