Variant Results

or

Results for "CREBBP"

Variant Events: 36

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

CREBBP

Mahjani2021:82

chr16:
3830776-3830776

C

T

exonic

nonsynonymous SNV

NM_001079846
NM_004380

c.G1666A
c.G1780A

p.E556K
p.E594K

25.2

-

Mahjani2021 E

CREBBP

12063_p1

chr16:
3786149-3786149

T

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.A4502G
c.A4616G

p.Y1501C
p.Y1539C

17.54

-

Fu2022 E

CREBBP

110212

chr16:
3801726-3801726

C

T

splicing

De novo

splicing

18.61

-

Fu2022 E

CREBBP

Mahjani2021:78

chr16:
3828011-3828011

C

T

splicing

16.84

-

Mahjani2021 E

CREBBP

Mahjani2021:77

chr16:
3779413-3779413

G

A

exonic

stopgain

NM_001079846
NM_004380

c.C5521T
c.C5635T

p.Q1841X
p.Q1879X

49.0

-

Mahjani2021 E

CREBBP

AU2029302

chr16:
3893253-3893253

C

T

intronic

De novo

-

Yuen2017 G

CREBBP

2-0270-004

chr16:
3798875-3798875

G

A

intronic

De novo

-

Yuen2017 G

CREBBP

80001101764

chr16:
3779464-3779485

CCTGCTGCAGGCGGTGCTGGAT

C

exonic

De novo

nonframeshift deletion

NM_001079846
NM_004380

c.5449_5469del
c.5563_5583del

p.1817_1823del
p.1855_1861del

-

Fu2022 E

CREBBP

12060_p1

chr16:
3786060-3786060

T

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.A4591G
c.A4705G

p.T1531A
p.T1569A

13.97

-

Fu2022 E

CREBBP

2-1195-003

chr16:
3869526-3869526

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CREBBP

12060.p1

chr16:
3786060-3786060

T

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.A4591G
c.A4705G

p.T1531A
p.T1569A

13.97

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

CREBBP

12063.p1

chr16:
3786149-3786149

T

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.A4502G
c.A4616G

p.Y1501C
p.Y1539C

17.54

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

CREBBP

12347.p1

chr16:
3842074-3842074

C

T

exonic

De novo

nonsynonymous SNV

NM_004380

c.G1238A

p.R413Q

26.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

CREBBP

AU027506

chr16:
3887806-3887813

AATTTATT

AATT

intronic

De novo

-

Yuen2017 G

CREBBP

M10006

chr16:
3843494-3843494

C

T

exonic

Inherited

nonsynonymous SNV

NM_001079846
NM_004380

c.G1109A
c.G1109A

p.R370Q
p.R370Q

28.8

-

Stessman2017 T

CREBBP

AU2029303

chr16:
3893253-3893253

C

T

intronic

De novo

-

Yuen2017 G

CREBBP

SP0015838

chr16:
3789719-3789719

C

G

exonic

De novo

synonymous SNV

NM_001079846
NM_004380

c.G4026C
c.G4140C

p.V1342V
p.V1380V

-

Fu2022 E

CREBBP

SP0041862

chr16:
3777966-3777966

G

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.C6968G
c.C7082G

p.S2323C
p.S2361C

12.42

-

Fu2022 E

CREBBP

SP0038016

chr16:
3790361-3790361

G

A

intronic

De novo

-

8.251E-6

Fu2022 E

CREBBP

SP0022178

chr16:
3778837-3778837

G

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.C6097G
c.C6211G

p.L2033V
p.L2071V

7.532

-

Fu2022 E

CREBBP

SP0026933

chr16:
3777957-3777957

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001079846
NM_004380

c.C6977T
c.C7091T

p.S2326L
p.S2364L

14.37

-

Feliciano2019 E

CREBBP

G01-GEA-99-HI

chr16:
3786054-3786054

C

A

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.G4597T
c.G4711T

p.A1533S
p.A1571S

6.118

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

CREBBP

SSC04562

chr16:
3842074-3842074

C

T

exonic

De novo

nonsynonymous SNV

NM_004380

c.G1238A

p.R413Q

26.6

-

Antaki2022 GE
Fu2022 E
Lim2017 E

CREBBP

2-1365-003

chr16:
3962447-3962447

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CREBBP

2-1105-003

chr16:
3788893-3788893

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CREBBP

SP0027722

chr16:
3807895-3807895

T

C

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.A3410G
c.A3524G

p.Y1137C
p.Y1175C

15.06

-

Feliciano2019 E
Fu2022 E

CREBBP

07C65175

chr16:
3778051-3778051

G

T

exonic

Inherited

nonsynonymous SNV

NM_001079846
NM_004380

c.C6883A
c.C6997A

p.Q2295K
p.Q2333K

11.65

8.277E-6

Stessman2017 T

CREBBP

SP0020403

chr16:
3820881-3820881

G

A

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.C2456T
c.C2570T

p.P819L
p.P857L

21.1

8.24E-6

Feliciano2019 E
Fu2022 E

CREBBP

Yalcintepe2021:20

chr16:
3831226-3831226

G

T

exonic

nonsynonymous SNV

NM_001079846
NM_004380

c.C1541A
c.C1655A

p.P514Q
p.P552Q

14.95

-

Yalcintepe2021 T

CREBBP

Codina-Sola2015:ASD_29

chr16:
3789589-3789589

G

C

exonic

Maternal

nonsynonymous SNV

NM_001079846
NM_004380

c.C4156G
c.C4270G

p.P1386A
p.P1424A

20.9

-

Codina-Sola2015 E

CREBBP

11252.p1

chr16:
3930300-3930300

G

A

upstream

De novo

-

Turner2016 G

CREBBP

EGAN00001100985

chr16:
3781903-3781903

C

G

exonic

De novo

nonsynonymous SNV

NM_001079846
NM_004380

c.G4650C
c.G4764C

p.K1550N
p.K1588N

15.91

-

Fu2022 E
Satterstrom2020 E

CREBBP

12493.p1

chr16:
3930300-3930300

G

A

upstream

De novo

-

Turner2016 G

CREBBP

1-0435-003

chr16:
3788903-3788903

A

G

intronic

De novo

-

Yuen2017 G

CREBBP

217-14132-2300

chr16:
3843551-3843551

C

T

exonic

Unknown

nonsynonymous SNV

NM_001079846
NM_004380

c.G1052A
c.G1052A

p.R351H
p.R351H

24.2

8.237E-6

Stessman2017 T

CREBBP

SP0112112

chr16:
3828691-3828703

AGCAACCTACCCT

A

exonic

De novo

nonframeshift deletion

NM_001079846
NM_004380

c.1825_1827del
c.1939_1941del

p.609_609del
p.647_647del

-

Antaki2022 GE
Fu2022 E

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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