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Results for "LRRTM4"

Variant Events: 101

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     3-0436-000chr2:
77968869-77968869
GAintergenicDe novo--Yuen2016 G
LRRTM4     1-0563-004chr2:
77881593-77881593
AGintergenicDe novo--Yuen2017 G
LRRTM4     AU3808305chr2:
76980073-76980073
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     1-0452-003chr2:
77928905-77928905
TCintergenicDe novo--Yuen2017 G
LRRTM4     1-0896-003chr2:
77639251-77639251
CTintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     2-0713-003chr2:
77744930-77744930
GCUTR3De novo--Yuen2017 G
LRRTM4     1-0203-003chr2:
77266022-77266022
CAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     1-0820-003chr2:
77826583-77826583
TCintergenicDe novo--Yuen2017 G
LRRTM4     2-1093-003chr2:
77013276-77013276
AAAGTintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     AU0146302chr2:
77185857-77185857
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     3-0439-000chr2:
77014858-77014858
AGintronicDe novo--Yuen2016 G
LRRTM4     AU3768302chr2:
76988402-76988402
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     2-1117-003chr2:
77812288-77812288
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRTM4     2-1318-004chr2:
77620471-77620471
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     SJD_34.3chr2:
77009885-77009885
CTintronicDe novo--Trost2022 G
LRRTM4     5-5153-003chr2:
77029149-77029149
CTintronicDe novo--Trost2022 G
LRRTM4     3-0442-000chr2:
77331345-77331345
CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRRTM4     1-0007-003chr2:
77706804-77706819
TTCTCTCTCTCTCTCTTTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
LRRTM4     AU4067303chr2:
77126472-77126480
CACACACATCintronicDe novo--Trost2022 G
LRRTM4     2-1426-003chr2:
77150851-77150851
CGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     3-0475-000chr2:
77127645-77127645
GAintronicDe novo--Trost2022 G
LRRTM4     3-0783-000chr2:
77124219-77124219
TAintronicDe novo--Trost2022 G
LRRTM4     MSSNG00373-003chr2:
77125926-77125930
TAGAGTintronicDe novo--Trost2022 G
LRRTM4     3-0703-000chr2:
77058858-77058858
TCintronicDe novo--Trost2022 G
LRRTM4     MSSNG00242-003chr2:
77087415-77087415
TCintronicDe novo--Trost2022 G
LRRTM4     MT_20.3chr2:
77042173-77042173
AGintronicDe novo--Trost2022 G
LRRTM4     MT_184.3chr2:
77049156-77049156
AGintronicDe novo--Trost2022 G
LRRTM4     AU055603chr2:
77200293-77200294
GAGintronicDe novo--Trost2022 G
LRRTM4     4-0073-003chr2:
77152345-77152347
TTAAATintronicDe novo--Trost2022 G
LRRTM4     MT_178.4chr2:
77174355-77174355
TCintronicDe novo--Trost2022 G
LRRTM4     MSSNG00094-003chr2:
77146603-77146603
GAintronicDe novo--Trost2022 G
LRRTM4     mAGRE2690chr2:
76975964-76975964
GGTGGCexonicPaternalframeshift insertionNM_001134745
NM_001282924
c.1629_1630insGCCA
c.1629_1630insGCCA
p.L544fs
p.L544fs
-2.495E-5Cirnigliaro2023 G
LRRTM4     3-0067-000chr2:
77148067-77148067
TAintronicDe novo--Trost2022 G
LRRTM4     REACH000198chr2:
77303079-77303079
GAintronicDe novo--Trost2022 G
LRRTM4     7-0337-004chr2:
77303708-77303708
CTintronicDe novo--Trost2022 G
LRRTM4     1-0079-003chr2:
77297962-77297962
GAintronicDe novo--Trost2022 G
LRRTM4     1-0079-003chr2:
77297969-77297969
CAintronicDe novo--Trost2022 G
LRRTM4     5-5027-003chr2:
77295837-77295837
GAintronicDe novo--Trost2022 G
LRRTM4     2-1290-003chr2:
77288811-77288815
CAAATCintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     2-1346-003chr2:
77158748-77158748
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRRTM4     1-0079-003chr2:
77297957-77297957
ATintronicDe novo--Trost2022 G
LRRTM4     4-0062-003chr2:
77277515-77277516
TGAAintronicDe novo--Trost2022 G
LRRTM4     SP0067274chr2:
77748798-77748798
CTUTR5De novo--Fu2022 E
LRRTM4     REACH000655chr2:
77386540-77386540
CTintronicDe novo--Trost2022 G
LRRTM4     2-1733-003chr2:
77397302-77397302
GTintronicDe novo--Trost2022 G
LRRTM4     2-1480-003chr2:
77365429-77365429
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
LRRTM4     AU2448301chr2:
77352482-77352482
ATintronicDe novo--Trost2022 G
LRRTM4     AU2237301chr2:
77379287-77379287
TCintronicDe novo--Trost2022 G
LRRTM4     4-0054-003chr2:
77342264-77342264
AGintronicDe novo--Trost2022 G
LRRTM4     7-0408-003chr2:
77348820-77348820
GAintronicDe novo--Trost2022 G
LRRTM4     MSSNG00346-003chr2:
77331034-77331034
AGintronicDe novo--Trost2022 G
LRRTM4     AU2320301chr2:
77337352-77337352
CTintronicDe novo--Trost2022 G
LRRTM4     1-1047-003chr2:
77462842-77462842
TGintronicDe novo--Trost2022 G
LRRTM4     1-0804-003chr2:
77091644-77091644
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     5-5024-003chr2:
77497371-77497371
GTintronicDe novo--Trost2022 G
LRRTM4     4-0037-003chr2:
77453248-77453248
TCintronicDe novo--Trost2022 G
LRRTM4     7-0379-003chr2:
77461451-77461451
GCintronicDe novo--Trost2022 G
LRRTM4     2-0244-003chr2:
77427630-77427631
AATTintronicDe novo--Trost2022 G
LRRTM4     2-1359-005chr2:
77449888-77449888
GAintronicDe novo--Trost2022 G
LRRTM4     5-0072-003chr2:
77399724-77399730
CATAAAACintronicDe novo--Trost2022 G
LRRTM4     1-0079-003chr2:
77014345-77014345
CCATGTTGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     AU2320301chr2:
77418814-77418814
TGintronicDe novo--Trost2022 G
LRRTM4     1-1197-003chr2:
77567597-77567597
ACintronicDe novo--Trost2022 G
LRRTM4     A6chr2:
77311153-77311153
CGintronicDe novo--Wu2018 G
LRRTM4     AU059003chr2:
77579160-77579160
ACintronicDe novo--Trost2022 G
LRRTM4     2-1480-003chr2:
77367538-77367538
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     AU011903chr2:
77540536-77540536
TCintronicDe novo--Trost2022 G
LRRTM4     MSSNG00199-003chr2:
77544653-77544655
CCTCintronicDe novo--Trost2022 G
LRRTM4     2-1272-003chr2:
77040634-77040634
TAintronicDe novo--Yuen2016 G
LRRTM4     AU2320301chr2:
77524981-77524981
TAintronicDe novo--Trost2022 G
LRRTM4     AU011903chr2:
77540532-77540532
GCintronicDe novo--Trost2022 G
LRRTM4     1-1131-003chr2:
77510872-77510872
TCintronicDe novo--Trost2022 G
LRRTM4     5-5024-003chr2:
77513223-77513223
TCintronicDe novo--Trost2022 G
LRRTM4     1-0606-003chr2:
77694230-77694233
TTTGTintronicDe novo--Trost2022 G
LRRTM4     7-0059-003chr2:
77703866-77703867
AATTintronicDe novo--Trost2022 G
LRRTM4     AU4429301chr2:
77120079-77120079
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     MT_68.3chr2:
77671252-77671252
TAintronicDe novo--Trost2022 G
LRRTM4     2-1146-003chr2:
77285799-77285799
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     4-0062-003chr2:
77685576-77685577
TTAAintronicDe novo--Trost2022 G
LRRTM4     AU004403chr2:
77607528-77607528
ACintronicDe novo--Trost2022 G
LRRTM4     MSSNG00390-003chr2:
77663716-77663716
AGintronicDe novo--Trost2022 G
LRRTM4     MSSNG00031-004chr2:
77588643-77588643
TCintronicDe novo--Trost2022 G
LRRTM4     2-0205-003chr2:
77604353-77604353
TCintronicDe novo--Trost2022 G
LRRTM4     AU3610302chr2:
77135104-77135104
CTintronicDe novo--Yuen2017 G
LRRTM4     MSSNG00232-003chr2:
77710288-77710288
GCintronicDe novo--Trost2022 G
LRRTM4     AU2109302chr2:
77488573-77488573
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     AU4263304chr2:
77080622-77080622
GCintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     1-0203-004chr2:
77016608-77016608
GCintronicDe novo--Trost2022 G
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     AU056003chr2:
77778056-77778056
AGintergenicDe novo--Yuen2017 G
LRRTM4     AU050603chr2:
77750932-77750932
AGintergenicDe novo--Yuen2017 G
LRRTM4     AU0638302chr2:
77711244-77711244
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     AU046707chr2:
77554362-77554362
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     1-0295-003chr2:
77558601-77558601
AGintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     3-0134-000chr2:
77650268-77650268
TAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     74-0265chr2:
77624541-77624541
TGintronicDe novo--Michaelson2012 G
LRRTM4     2-0144-004chr2:
77277825-77277825
TCintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     3-0430-000chr2:
77159547-77159547
CGintronicDe novo--Trost2022 G
Yuen2016 G
LRRTM4     5-0137-003chr2:
77340823-77340823
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     2-1391-004chr2:
77719422-77719422
GAintronicDe novo--Trost2022 G
Yuen2017 G
LRRTM4     2-1255-003chr2:
77723666-77723666
TCintronicDe novo--Yuen2016 G
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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