Variant Results

or

Results for "MBD5"

Variant Events: 51

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

2-1480-003

chr2:
148798016-148798016

T

G

intronic

De novo

-

Yuen2017 G

MBD5

AU012204

chr2:
149226485-149226485

C

T

exonic

De novo

stopgain

NM_018328

c.C973T

p.R325X

46.0

-

Zhou2019 T

MBD5

11797.p1

chr2:
149243521-149243521

T

A

splicing

Maternal

splicing

17.82

-

O’Roak2012a T

MBD5

1-0440-003

chr2:
148797392-148797392

C

T

intronic

De novo

-

Yuen2017 G

MBD5

AU1355301

chr2:
148783450-148783450

A

G

intronic

De novo

-

Yuen2017 G

MBD5

AU3760302

chr2:
148929893-148929893

G

T

intronic

De novo

-

Yuen2017 G

MBD5

SP0068938

chr2:
149243451-149243451

C

T

exonic

De novo

stopgain

NM_018328

c.C2986T

p.Q996X

50.0

-

Antaki2022 GE
Fu2022 E

MBD5

SSC04350

chr2:
149225965-149225967

GTC

G

exonic

frameshift deletion

NM_018328

c.454_455del

p.S152fs

-

Antaki2022 GE

MBD5

AU030104

chr2:
148909040-148909040

A

C

intronic

De novo

-

Yuen2017 G

MBD5

AU030104

chr2:
148909047-148909047

C

T

intronic

De novo

-

Yuen2017 G

MBD5

5-0095-003

chr2:
148798978-148798978

A

G

intronic

De novo

-

Yuen2017 G

MBD5

AU3984302

chr2:
148888806-148888806

T

A

intronic

De novo

-

Yuen2017 G

MBD5

2-1177-003

chr2:
149334792-149334792

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MBD5

SP0039864

chr2:
149227521-149227525

TCAGA

T

exonic

De novo

frameshift deletion

NM_018328

c.2010_2013del

p.L670fs

-

Feliciano2019 E
Fu2022 E

MBD5

AU076808

chr2:
149391827-149391827

T

G

intergenic

De novo

-

Yuen2017 G

MBD5

AU2793303

chr2:
149039119-149039119

G

A

intronic

De novo

-

Yuen2017 G

MBD5

AU066206

chr2:
148987570-148987570

A

C

intronic

De novo

-

Yuen2017 G

MBD5

AU3637301

chr2:
148939250-148939250

T

G

intronic

De novo

-

Yuen2017 G

MBD5

1-0121-003

chr2:
149031188-149031188

A

G

intronic

De novo

-

Yuen2017 G

MBD5

GEA393

chr2:
149226086-149226086

C

T

exonic

De novo

stopgain

NM_018328

c.C574T

p.Q192X

45.0

-

Fu2022 E

MBD5

12346_p1

chr2:
149225965-149225967

GTC

G

exonic

De novo

frameshift deletion

NM_018328

c.454_455del

p.S152fs

-

Fu2022 E

MBD5

AU4463303

chr2:
149050831-149050831

G

A

intronic

De novo

-

Yuen2017 G

MBD5

GEA483

chr2:
149221353-149221361

GAAGATGTT

G

exonic

De novo

frameshift deletion

NM_018328

c.263_270del

p.E88fs

-

Fu2022 E

MBD5

AU4093304

chr2:
149158000-149158000

G

C

intronic

De novo

-

Yuen2017 G

MBD5

NDAR_INVMK181HMA_wes1

chr2:
149260086-149260086

C

A

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

MBD5

AU4093301

chr2:
149238331-149238331

G

T

intronic

De novo

-

Yuen2017 G

MBD5

2-1702-004

chr2:
149307319-149307319

C

T

intergenic

De novo

-

Yuen2017 G

MBD5

7-0012-003

chr2:
149022091-149022091

A

G

intronic

De novo

-

Yuen2017 G

MBD5

G01_GEA472HI

chr2:
149248161-149248169

AAGGTATAC

A

exonic

De novo

frameshift deletion

NM_018328

c.4262_4263del

p.K1421fs

-

Fu2022 E

MBD5

1-0384-003

chr2:
149216138-149216138

G

A

UTR5

De novo

-

Yuen2017 G

MBD5

2-1189-003

chr2:
149269370-149269370

C

G

intronic

De novo

-

Yuen2017 G

MBD5

AU030103

chr2:
148909040-148909040

A

C

intronic

De novo

-

Yuen2017 G

MBD5

AU030103

chr2:
148909047-148909047

C

T

intronic

De novo

-

Yuen2017 G

MBD5

2-1375-003

chr2:
148943680-148943680

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MBD5

7-0127-003

chr2:
149025626-149025626

C

T

intronic

De novo

-

Yuen2017 G

MBD5

AU2485305

chr2:
149017997-149017997

C

T

intronic

De novo

-

Yuen2017 G

MBD5

AU4306302

chr2:
149230668-149230668

A

T

intronic

De novo

-

Yuen2017 G

MBD5

ASD032

chr2:
149216339-149216342

CAAA

CA

exonic

De novo

frameshift deletion

NM_018328

c.14_15del

p.K5fs

-

Tran2020 E
Wu2019 E

MBD5

SP0125396

chr2:
149227475-149227475

G

A

exonic

De novo

nonsynonymous SNV

NM_018328

c.G1963A

p.A655T

14.57

8.247E-6

Fu2022 E

MBD5

12346.p1

chr2:
149225965-149225967

GTC

G

exonic

De novo

frameshift deletion

NM_018328

c.454_455del

p.S152fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

MBD5

SP0106824

chr2:
149243398-149243398

C

T

exonic

De novo

nonsynonymous SNV

NM_018328

c.C2933T

p.P978L

16.16

-

Fu2022 E

MBD5

G01-GEA-102-HI

chr2:
149226200-149226200

C

T

exonic

De novo

stopgain

NM_018328

c.C688T

p.Q230X

45.0

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

MBD5

2-1085-003

chr2:
149014797-149014797

G

A

intronic

De novo

-

Yuen2017 G

MBD5

1-0184-003

chr2:
149222248-149222248

C

G

intronic

De novo

-

Yuen2017 G

MBD5

2-0006-003

chr2:
148827214-148827214

C

A

intronic

De novo

-

Yuen2017 G

MBD5

1-0272-003

chr2:
148901108-148901108

A

ATATG

intronic

De novo

-

Yuen2017 G

MBD5

A32

chr2:
148810444-148810444

T

A

intronic

De novo

-

Wu2018 G

MBD5

7-0223-003

chr2:
149202400-149202400

G

C

intronic

De novo

-

Yuen2017 G

MBD5

1-0493-003

chr2:
149371901-149371901

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MBD5

AU3874301

chr2:
149204024-149204024

G

A

intronic

De novo

-

Yuen2017 G

MBD5

7-0143-003

chr2:
149277884-149277884

G

A

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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