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Results for "MBD5"

Variant Events: 43

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
MBD5     7-0012-003chr2:
149022091-149022091
AGintronicDe novo--Yuen2017 G
MBD5     2-1480-003chr2:
148798016-148798016
TGintronicDe novo--Yuen2017 G
MBD5     AU012204chr2:
149226485-149226485
CTexonicDe novostopgainNM_018328c.C973Tp.R325X46.0-Zhou2019 T
MBD5     11797.p1chr2:
149243521-149243521
TAsplicingMaternalsplicing17.82-O’Roak2012a T
MBD5     1-0384-003chr2:
149216138-149216138
GAUTR5De novo--Yuen2017 G
MBD5     1-0440-003chr2:
148797392-148797392
CTintronicDe novo--Yuen2017 G
MBD5     AU1355301chr2:
148783450-148783450
AGintronicDe novo--Yuen2017 G
MBD5     AU3760302chr2:
148929893-148929893
GTintronicDe novo--Yuen2017 G
MBD5     2-1189-003chr2:
149269370-149269370
CGintronicDe novo--Yuen2017 G
MBD5     AU030103chr2:
148909040-148909040
ACintronicDe novo--Yuen2017 G
MBD5     AU030103chr2:
148909047-148909047
CTintronicDe novo--Yuen2017 G
MBD5     2-1375-003chr2:
148943680-148943680
CTintronicDe novo--Yuen2016 G
Yuen2017 G
MBD5     7-0127-003chr2:
149025626-149025626
CTintronicDe novo--Yuen2017 G
MBD5     AU030104chr2:
148909040-148909040
ACintronicDe novo--Yuen2017 G
MBD5     AU030104chr2:
148909047-148909047
CTintronicDe novo--Yuen2017 G
MBD5     AU2485305chr2:
149017997-149017997
CTintronicDe novo--Yuen2017 G
MBD5     5-0095-003chr2:
148798978-148798978
AGintronicDe novo--Yuen2017 G
MBD5     AU4306302chr2:
149230668-149230668
ATintronicDe novo--Yuen2017 G
MBD5     ASD032chr2:
149216339-149216342
CAAACAexonicDe novoframeshift deletionNM_018328c.14_15delp.K5fs--Tran2020 E
Wu2019 E
MBD5     12346.p1chr2:
149225965-149225967
GTCGexonicDe novoframeshift deletionNM_018328c.454_455delp.S152fs--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
MBD5     G01-GEA-102-HIchr2:
149226200-149226200
CTexonicDe novostopgainNM_018328c.C688Tp.Q230X45.0-Lim2017 E
Satterstrom2020 E
MBD5     AU3984302chr2:
148888806-148888806
TAintronicDe novo--Yuen2017 G
MBD5     2-1085-003chr2:
149014797-149014797
GAintronicDe novo--Yuen2017 G
MBD5     2-1177-003chr2:
149334792-149334792
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
MBD5     SP0039864chr2:
149227521-149227525
TCAGATexonicDe novoframeshift deletionNM_018328c.2010_2013delp.L670fs--Feliciano2019 E
MBD5     1-0184-003chr2:
149222248-149222248
CGintronicDe novo--Yuen2017 G
MBD5     2-0006-003chr2:
148827214-148827214
CAintronicDe novo--Yuen2017 G
MBD5     AU076808chr2:
149391827-149391827
TGintergenicDe novo--Yuen2017 G
MBD5     1-0272-003chr2:
148901108-148901108
AATATGintronicDe novo--Yuen2017 G
MBD5     AU2793303chr2:
149039119-149039119
GAintronicDe novo--Yuen2017 G
MBD5     AU066206chr2:
148987570-148987570
ACintronicDe novo--Yuen2017 G
MBD5     AU3637301chr2:
148939250-148939250
TGintronicDe novo--Yuen2017 G
MBD5     1-0121-003chr2:
149031188-149031188
AGintronicDe novo--Yuen2017 G
MBD5     A32chr2:
148810444-148810444
TAintronicDe novo--Wu2018 G
MBD5     AU4463303chr2:
149050831-149050831
GAintronicDe novo--Yuen2017 G
MBD5     7-0223-003chr2:
149202400-149202400
GCintronicDe novo--Yuen2017 G
MBD5     1-0493-003chr2:
149371901-149371901
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
MBD5     AU3874301chr2:
149204024-149204024
GAintronicDe novo--Yuen2017 G
MBD5     AU4093304chr2:
149158000-149158000
GCintronicDe novo--Yuen2017 G
MBD5     NDAR_INVMK181HMA_wes1chr2:
149260086-149260086
CAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
MBD5     AU4093301chr2:
149238331-149238331
GTintronicDe novo--Yuen2017 G
MBD5     2-1702-004chr2:
149307319-149307319
CTintergenicDe novo--Yuen2017 G
MBD5     7-0143-003chr2:
149277884-149277884
GAintergenicDe 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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