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Results for "MBD2"

Variant Events: 13

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
MBD2     5-0050-004chr18:
51718789-51718789
GTintronicDe novo--Yuen2017 G
MBD2     AU4079301chr18:
51788708-51788708
CGintergenicDe novo--Yuen2017 G
MBD2     SSC05756chr18:
51686245-51686245
GAexonicDe novononsynonymous SNVNM_003927c.C1138Tp.R380C19.06-Lim2017 E
MBD2     3-0661-000chr18:
51763540-51763540
AGintergenicDe novo--Yuen2017 G
MBD2     2-1375-003chr18:
51721191-51721191
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MBD2     2-1689-003chr18:
51781287-51781287
AGintergenicDe novo--Yuen2017 G
MBD2     1-0972-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
MBD2     2-0223-004chr18:
51703074-51703074
CTintronicDe novo--Yuen2017 G
MBD2     G01-GEA-10-HIchr18:
51748788-51748792
ACTTTAintronicDe novo--Satterstrom2020 E
MBD2     12910.p1chr18:
51686245-51686245
GAexonicMosaic, De novononsynonymous SNVNM_003927c.C1138Tp.R380C19.06-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MBD2     1-0559-003chr18:
51746463-51746463
GAintronicDe novo--Yuen2017 G
MBD2     12786.p1chr18:
51703894-51703894
TAintronicDe novo--Werling2018 G
MBD2     1-0153-004chr18:
51763128-51763128
GCintergenicDe 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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