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Results for "MAML2"

Variant Events: 26

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     AU061104chr11:
95785191-95785191
TCintronicDe novo--Yuen2017 G
MAML2     AU3984302chr11:
95806705-95806705
CAintronicDe novo--Yuen2017 G
MAML2     AU2950302chr11:
95983749-95983749
AGintronicDe novo--Yuen2017 G
MAML2     AU039305chr11:
95915150-95915150
AGintronicDe novo--Yuen2017 G
MAML2     2-1567-004chr11:
95913866-95913866
TGintronicDe novo--Yuen2017 G
MAML2     2-0116-004chr11:
96005087-96005087
TCintronicDe novo--Yuen2017 G
MAML2     AU024105chr11:
96067585-96067585
GTintronicDe novo--Yuen2017 G
MAML2     2-1131-003chr11:
95877953-95877953
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MAML2     2-0102-004chr11:
96076664-96076664
AGupstreamDe novo--Yuen2017 G
MAML2     Shi2013:2chr11:
95724805-95724805
TCexonicInheritednonsynonymous SNVNM_032427c.A2222Gp.Y741C17.914.971E-5Shi2013 G
MAML2     Shi2013:1chr11:
95724805-95724805
TCexonicInheritednonsynonymous SNVNM_032427c.A2222Gp.Y741C17.914.971E-5Shi2013 G
MAML2     2-1729-003chr11:
95887690-95887690
TAintronicDe novo--Yuen2017 G
MAML2     1-0559-004chr11:
95940524-95940524
CTintronicDe novo--Yuen2017 G
MAML2     1-0627-003chr11:
95903775-95903775
GAintronicDe novo--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     13023.p1chr11:
95862825-95862825
TAintronicDe novo--Turner2016 G
MAML2     2-0122-003chr11:
95899277-95899277
TTCintronicDe novo--Yuen2017 G
MAML2     AU4103301chr11:
95929353-95929353
GAintronicDe novo--Yuen2017 G
MAML2     2-1339-003chr11:
96015007-96015007
GAintronicDe novo--Yuen2017 G
MAML2     1-0973-003chr11:
95764770-95764770
TAintronicDe novo--Yuen2017 G
MAML2     AU2711303chr11:
95936101-95936101
AGintronicDe novo--Yuen2017 G
MAML2     1310012chr11:
95724689-95724689
CTexonicDe novononsynonymous SNVNM_032427c.G2338Ap.D780N15.39-Satterstrom2020 E
MAML2     2-1323-003chr11:
96037268-96037268
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MAML2     1-0295-003chr11:
95742874-95742874
AGintronicDe novo--Yuen2017 G
MAML2     1-0674-003chr11:
96082856-96082856
CTintergenicDe 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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