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Results for "LRRTM4"

Variant Events: 44

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
LRRTM4     1-0804-003chr2:
77091644-77091644
GAintronicDe novo--Yuen2017 G
LRRTM4     3-0436-000chr2:
77968869-77968869
GAintergenicDe novo--Yuen2016 G
LRRTM4     AU0146302chr2:
77185857-77185857
AGintronicDe novo--Yuen2017 G
LRRTM4     1-0295-003chr2:
77558601-77558601
AGintronicDe novo--Yuen2017 G
LRRTM4     1-0079-003chr2:
77014345-77014345
CCATGTTGintronicDe novo--Yuen2017 G
LRRTM4     A6chr2:
77311153-77311153
CGintronicDe novo--Wu2018 G
LRRTM4     2-1480-003chr2:
77367538-77367538
GAintronicDe novo--Yuen2017 G
LRRTM4     2-1272-003chr2:
77040634-77040634
TAintronicDe novo--Yuen2016 G
LRRTM4     3-0439-000chr2:
77014858-77014858
AGintronicDe novo--Yuen2016 G
LRRTM4     AU4429301chr2:
77120079-77120079
AGintronicDe novo--Yuen2017 G
LRRTM4     1-0563-004chr2:
77881593-77881593
AGintergenicDe novo--Yuen2017 G
LRRTM4     2-1146-003chr2:
77285799-77285799
AGintronicDe novo--Yuen2017 G
LRRTM4     AU3768302chr2:
76988402-76988402
AGintronicDe novo--Yuen2017 G
LRRTM4     2-1117-003chr2:
77812288-77812288
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRTM4     3-0134-000chr2:
77650268-77650268
TAintronicDe novo--Yuen2017 G
LRRTM4     AU3808305chr2:
76980073-76980073
AGintronicDe novo--Yuen2017 G
LRRTM4     2-1318-004chr2:
77620471-77620471
AGintronicDe novo--Yuen2017 G
LRRTM4     3-0442-000chr2:
77331345-77331345
CAintronicDe novo--Yuen2016 G
Yuen2017 G
LRRTM4     74-0265chr2:
77624541-77624541
TGintronicDe novo--Michaelson2012 G
LRRTM4     1-0007-003chr2:
77706804-77706819
TTCTCTCTCTCTCTCTTTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
LRRTM4     1-0452-003chr2:
77928905-77928905
TCintergenicDe novo--Yuen2017 G
LRRTM4     AU3610302chr2:
77135104-77135104
CTintronicDe novo--Yuen2017 G
LRRTM4     2-0144-004chr2:
77277825-77277825
TCintronicDe novo--Yuen2017 G
LRRTM4     2-1426-003chr2:
77150851-77150851
CGintronicDe novo--Yuen2017 G
LRRTM4     AU2109302chr2:
77488573-77488573
GAintronicDe novo--Yuen2017 G
LRRTM4     AU4263304chr2:
77080622-77080622
GCintronicDe novo--Yuen2017 G
LRRTM4     3-0430-000chr2:
77159547-77159547
CGintronicDe novo--Yuen2016 G
LRRTM4     1-0896-003chr2:
77639251-77639251
CTintronicDe novo--Yuen2017 G
LRRTM4     2-0713-003chr2:
77744930-77744930
GCUTR3De novo--Yuen2017 G
LRRTM4     5-0137-003chr2:
77340823-77340823
GAintronicDe novo--Yuen2017 G
LRRTM4     1-0203-004chr2:
77016608-77016608
GCintronicDe novo--Yuen2017 G
LRRTM4     2-1391-004chr2:
77719422-77719422
GAintronicDe novo--Yuen2017 G
LRRTM4     2-1255-003chr2:
77723666-77723666
TCintronicDe novo--Yuen2016 G
Yuen2017 G
LRRTM4     1-0203-003chr2:
77266022-77266022
CAintronicDe novo--Yuen2017 G
LRRTM4     1-0820-003chr2:
77826583-77826583
TCintergenicDe novo--Yuen2017 G
LRRTM4     iHART2690chr2:
76975964-76975964
GGTGGCexonicPaternalframeshift insertionNM_001134745
NM_001282924
c.1629_1630insGCCA
c.1629_1630insGCCA
p.L544fs
p.L544fs
-2.495E-5Ruzzo2019 G
LRRTM4     2-1290-003chr2:
77288811-77288815
CAAATCintronicDe novo--Yuen2017 G
LRRTM4     2-1346-003chr2:
77158748-77158748
TCintronicDe novo--Yuen2016 G
Yuen2017 G
LRRTM4     AU056003chr2:
77778056-77778056
AGintergenicDe novo--Yuen2017 G
LRRTM4     2-1480-003chr2:
77365429-77365429
TAintronicDe novo--Yuen2016 G
Yuen2017 G
LRRTM4     AU050603chr2:
77750932-77750932
AGintergenicDe novo--Yuen2017 G
LRRTM4     AU0638302chr2:
77711244-77711244
TCintronicDe novo--Yuen2017 G
LRRTM4     2-1093-003chr2:
77013276-77013276
AAAGTintronicDe novo--Yuen2017 G
LRRTM4     AU046707chr2:
77554362-77554362
AGintronicDe 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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