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Results for "CREBBP"

Variant Events: 26

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     Mahjani2021:82chr16:
3830776-3830776
CTexonicnonsynonymous SNVNM_001079846
NM_004380
c.G1666A
c.G1780A
p.E556K
p.E594K
25.2-Mahjani2021 E
CREBBP     Mahjani2021:78chr16:
3828011-3828011
CTsplicingsplicing16.84-Mahjani2021 E
CREBBP     Mahjani2021:77chr16:
3779413-3779413
GAexonicstopgainNM_001079846
NM_004380
c.C5521T
c.C5635T
p.Q1841X
p.Q1879X
49.0-Mahjani2021 E
CREBBP     AU2029302chr16:
3893253-3893253
CTintronicDe novo--Yuen2017 G
CREBBP     2-0270-004chr16:
3798875-3798875
GAintronicDe novo--Yuen2017 G
CREBBP     2-1195-003chr16:
3869526-3869526
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CREBBP     12060.p1chr16:
3786060-3786060
TCexonicDe novononsynonymous SNVNM_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.p1chr16:
3786149-3786149
TCexonicDe novononsynonymous SNVNM_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.p1chr16:
3842074-3842074
CTexonicDe novononsynonymous SNVNM_004380c.G1238Ap.R413Q26.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CREBBP     AU027506chr16:
3887806-3887813
AATTTATTAATTintronicDe novo--Yuen2017 G
CREBBP     M10006chr16:
3843494-3843494
CTexonicInheritednonsynonymous SNVNM_001079846
NM_004380
c.G1109A
c.G1109A
p.R370Q
p.R370Q
28.8-Stessman2017 T
CREBBP     AU2029303chr16:
3893253-3893253
CTintronicDe novo--Yuen2017 G
CREBBP     SP0026933chr16:
3777957-3777957
GAexonicMosaicnonsynonymous SNVNM_001079846
NM_004380
c.C6977T
c.C7091T
p.S2326L
p.S2364L
14.37-Feliciano2019 E
CREBBP     G01-GEA-99-HIchr16:
3786054-3786054
CAexonicDe novononsynonymous SNVNM_001079846
NM_004380
c.G4597T
c.G4711T
p.A1533S
p.A1571S
6.118-Lim2017 E
Satterstrom2020 E
CREBBP     SSC04562chr16:
3842074-3842074
CTexonicDe novononsynonymous SNVNM_004380c.G1238Ap.R413Q26.6-Lim2017 E
CREBBP     2-1365-003chr16:
3962447-3962447
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CREBBP     2-1105-003chr16:
3788893-3788893
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CREBBP     SP0027722chr16:
3807895-3807895
TCexonicDe novononsynonymous SNVNM_001079846
NM_004380
c.A3410G
c.A3524G
p.Y1137C
p.Y1175C
15.06-Feliciano2019 E
CREBBP     07C65175chr16:
3778051-3778051
GTexonicInheritednonsynonymous SNVNM_001079846
NM_004380
c.C6883A
c.C6997A
p.Q2295K
p.Q2333K
11.658.277E-6Stessman2017 T
CREBBP     SP0020403chr16:
3820881-3820881
GAexonicDe novononsynonymous SNVNM_001079846
NM_004380
c.C2456T
c.C2570T
p.P819L
p.P857L
21.18.24E-6Feliciano2019 E
CREBBP     Codina-Sola2015:ASD_29chr16:
3789589-3789589
GCexonicMaternalnonsynonymous SNVNM_001079846
NM_004380
c.C4156G
c.C4270G
p.P1386A
p.P1424A
20.9-Codina-Sola2015 E
CREBBP     11252.p1chr16:
3930300-3930300
GAupstreamDe novo--Turner2016 G
CREBBP     EGAN00001100985chr16:
3781903-3781903
CGexonicDe novononsynonymous SNVNM_001079846
NM_004380
c.G4650C
c.G4764C
p.K1550N
p.K1588N
15.91-Satterstrom2020 E
CREBBP     12493.p1chr16:
3930300-3930300
GAupstreamDe novo--Turner2016 G
CREBBP     1-0435-003chr16:
3788903-3788903
AGintronicDe novo--Yuen2017 G
CREBBP     217-14132-2300chr16:
3843551-3843551
CTexonicUnknownnonsynonymous SNVNM_001079846
NM_004380
c.G1052A
c.G1052A
p.R351H
p.R351H
24.28.237E-6Stessman2017 T
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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