Variant Results

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or

Results for "MYBBP1A"

Variant Events: 19

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

MYBBP1A

2-1086-003

chr17:
4444852-4444852

C

T

exonic

De novo

nonsynonymous SNV

NM_001105538
NM_014520

c.G3203A
c.G3203A

p.R1068H
p.R1068H

8.264

Yuen2015 G
Yuen2017 G

MYBBP1A

SP0132245

chr17:
4458644-4458644

A

AAACACGT

UTR5

De novo

-

-

Fu2022 E

MYBBP1A

14685.p1

chr17:
4443171-4443171

G

GC

exonic

frameshift insertion

NM_001105538
NM_014520

c.3525dupG
c.3525dupG

p.P1176fs
p.P1176fs

-

-

Zhou2022 GE

MYBBP1A

SP0093147

chr17:
4455959-4455959

C

T

intronic

De novo

-

Fu2022 E

MYBBP1A

12346_p1

chr17:
4444853-4444853

G

T

exonic

De novo

nonsynonymous SNV

NM_001105538
NM_014520

c.C3202A
c.C3202A

p.R1068S
p.R1068S

11.22

-

Fu2022 E

MYBBP1A

SP0026424

chr17:
4442518-4442518

G

C

UTR3

De novo

-

-

Fu2022 E
Trost2022 G
Trost2022 G

MYBBP1A

mAGRE4765

chr17:
4442854-4442856

AAG

A

exonic

Paternal

frameshift deletion

NM_001105538
NM_014520

c.3841_3842del
c.3841_3842del

p.L1281fs
p.L1281fs

-

Cirnigliaro2023 G

MYBBP1A

2-1322-003

chr17:
4447311-4447311

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MYBBP1A

SP0010338

chr17:
4451419-4451419

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MYBBP1A

SP0082985

chr17:
4448361-4448361

C

T

exonic

De novo

nonsynonymous SNV

NM_001105538
NM_014520

c.G2270A
c.G2270A

p.R757Q
p.R757Q

37.0

-

Fu2022 E
Zhou2022 GE

MYBBP1A

SP0025124

chr17:
4446413-4446413

C

T

exonic

De novo

nonsynonymous SNV

NM_001105538
NM_014520

c.G2687A
c.G2687A

p.R896H
p.R896H

11.72

Fu2022 E
Zhou2022 GE

MYBBP1A

SP0087337

chr17:
4457442-4457442

C

A

intronic

De novo

-

-

Trost2022 G

MYBBP1A

iHART2687

chr17:
4452678-4452679

AC

A

exonic

Maternal

frameshift deletion

NM_001105538
NM_014520

c.1378delG
c.1378delG

p.V460fs
p.V460fs

-

Ruzzo2019 G

MYBBP1A

12346.p1

chr17:
4444853-4444853

G

T

exonic

De novo

nonsynonymous SNV

NM_001105538
NM_014520

c.C3202A
c.C3202A

p.R1068S
p.R1068S

11.22

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

MYBBP1A

2-1382-003

chr17:
4453184-4453184

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MYBBP1A

Wang2023:914

chr17:
4446383-4446383

C

T

exonic

De novo

nonsynonymous SNV

NM_001105538
NM_014520

c.G2717A
c.G2717A

p.R906Q
p.R906Q

13.08

Wang2023 E

MYBBP1A

mAGRE2687

chr17:
4452678-4452679

AC

A

exonic

Maternal

frameshift deletion

NM_001105538
NM_014520

c.1378delG
c.1378delG

p.V460fs
p.V460fs

-

Cirnigliaro2023 G

MYBBP1A

3814_18au

chr17:
4458720-4458720

G

A

upstream

De novo

-

-

Fu2022 E

MYBBP1A

mAGRE5904

chr17:
4444861-4444861

T

C

splicing

Maternal

splicing

7.278

Cirnigliaro2023 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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