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Results for "MAML2"

Variant Events: 55

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
MAML2     MSSNG00039-004chr11:
96031579-96031579
ACintronicDe novo--Trost2022 G
MAML2     MSSNG00026-004chr11:
96045854-96045854
AGintronicDe novo--Trost2022 G
MAML2     AU061104chr11:
95785191-95785191
TCintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     AU2950302chr11:
95983749-95983749
AGintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     09C99816chr11:
95826468-95826468
TAexonicDe novononsynonymous SNVNM_032427c.A727Tp.T243S11.78.283E-6Fu2022 E
MAML2     AU024105chr11:
96067585-96067585
GTintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     2-1131-003chr11:
95877953-95877953
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MAML2     2-0102-004chr11:
96076664-96076664
AGupstreamDe novo--Trost2022 G
Yuen2017 G
MAML2     Shi2013:1chr11:
95724805-95724805
TCexonicInheritednonsynonymous SNVNM_032427c.A2222Gp.Y741C17.914.971E-5Shi2013 G
MAML2     2-1729-003chr11:
95887690-95887690
TAintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     1-0559-004chr11:
95940524-95940524
CTintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     13045.p1chr11:
95825380-95825380
CTexonicDe novosynonymous SNVNM_032427c.G1815Ap.Q605Q-0.3599Iossifov2014 E
Kosmicki2017 E
MAML2     2-1105-003chr11:
96062186-96062186
GAintronicDe novo--Yuen2016 G
MAML2     2-1339-003chr11:
96015007-96015007
GAintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     AU2711303chr11:
95936101-95936101
AGintronicDe novo--Yuen2017 G
MAML2     1310012chr11:
95724689-95724689
CTexonicDe novononsynonymous SNVNM_032427c.G2338Ap.D780N15.39-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MAML2     2-1323-003chr11:
96037268-96037268
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MAML2     AU3984302chr11:
95806705-95806705
CAintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     AU039305chr11:
95915150-95915150
AGintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     2-1567-004chr11:
95913866-95913866
TGintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     2-0116-004chr11:
96005087-96005087
TCintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     SP0151052chr11:
95712668-95712668
GAexonicDe novononsynonymous SNVNM_032427c.C2915Tp.T972I11.8-Trost2022 G
MAML2     Shi2013:2chr11:
95724805-95724805
TCexonicInheritednonsynonymous SNVNM_032427c.A2222Gp.Y741C17.914.971E-5Shi2013 G
MAML2     SP0016143chr11:
95713087-95713087
CTexonicDe novosynonymous SNVNM_032427c.G2496Ap.L832L--Fu2022 E
Trost2022 G
Zhou2022 GE
MAML2     MSSNG00415-003chr11:
95801921-95801921
GAintronicDe novo--Trost2022 G
MAML2     7-0253-003chr11:
95823122-95823122
GTintronicDe novo--Trost2022 G
MAML2     MSSNG00037-004Achr11:
95771368-95771368
GTintronicDe novo--Trost2022 G
MAML2     1-0627-003chr11:
95903775-95903775
GAintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     7-0399-003chr11:
95794960-95794960
CCTintronicDe novo--Trost2022 G
MAML2     AU2718301chr11:
95744059-95744061
CAGCintronicDe novo--Trost2022 G
MAML2     3-0183-000chr11:
95754790-95754791
CTCintronicDe novo--Trost2022 G
MAML2     13023.p1chr11:
95862825-95862825
TAintronicDe novo--Turner2016 G
MAML2     1-1034-003chr11:
95732614-95732614
CTintronicDe novo--Trost2022 G
MAML2     2-0122-003chr11:
95899277-95899277
TTCintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     1-0107-003chr11:
95736260-95736260
TGintronicDe novo--Trost2022 G
MAML2     4-0073-003chr11:
95922510-95922511
TGAAintronicDe novo--Trost2022 G
MAML2     AU4103301chr11:
95929353-95929353
GAintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     1-1128-003chr11:
95922970-95922970
GAintronicDe novo--Trost2022 G
MAML2     4-0084-003chr11:
95861033-95861033
CTintronicDe novo--Trost2022 G
MAML2     1-0973-003chr11:
95764770-95764770
TAintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     AU2577301chr11:
95904994-95904994
CTintronicDe novo--Trost2022 G
MAML2     5-5064-003chr11:
95849305-95849305
TAintronicDe novo--Trost2022 G
MAML2     2-1143-003chr11:
95857278-95857278
ATintronicDe novo--Trost2022 G
MAML2     10-1118-003chr11:
95824343-95824343
GAintronicDe novo--Trost2022 G
MAML2     MSSNG00422-003chr11:
95831202-95831202
TCintronicDe novo--Trost2022 G
MAML2     1-0295-003chr11:
95742874-95742874
AGintronicDe novo--Trost2022 G
Yuen2017 G
MAML2     1-0674-003chr11:
96082856-96082856
CTintergenicDe novo--Yuen2017 G
MAML2     MSSNG00064-003chr11:
96005980-96005980
GAintronicDe novo--Trost2022 G
MAML2     MT_18.3chr11:
96016436-96016436
CGintronicDe novo--Trost2022 G
MAML2     1-1005-004chr11:
95981596-95981596
CTintronicDe novo--Trost2022 G
MAML2     1-1215-003chr11:
96005964-96005964
AGintronicDe novo--Trost2022 G
MAML2     5-0030-003chr11:
95981518-95981520
CATTGCintronicDe novo--Trost2022 G
MAML2     5-0030-003chr11:
95981523-95981523
ACintronicDe novo--Trost2022 G
MAML2     2-1349-003chr11:
95981443-95981443
AATintronicDe novo--Trost2022 G
MAML2     5-0030-003chr11:
95981509-95981511
CAACintronicDe novo--Trost2022 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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