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Results for "RBBP6"

Variant Events: 27

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
RBBP6     1-0210-004chr16:
24637188-24637188
GTintergenicDe novo--Trost2022 G
Yuen2017 G
RBBP6     Chen2017:116chr16:
24580513-24580513
TCexonicDe novosynonymous SNVNM_018703
NM_006910
c.T2400C
c.T2502C
p.Y800Y
p.Y834Y
-2.499E-5Chen2017 E
RBBP6     1-0551-003chr16:
24657358-24657358
AGintergenicDe novo--Trost2022 G
Yuen2017 G
RBBP6     AU3849302chr16:
24567014-24567014
GAexonicDe novononsynonymous SNVNM_006910
NM_018703
c.G427A
c.G427A
p.D143N
p.D143N
25.78.253E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
RBBP6     200675713_1082034209chr16:
24580513-24580513
TCexonicDe novosynonymous SNVNM_018703
NM_006910
c.T2400C
c.T2502C
p.Y800Y
p.Y834Y
-2.499E-5Fu2022 E
RBBP6     200675713@1082034209chr16:
24580513-24580513
TCexonicDe novosynonymous SNVNM_018703
NM_006910
c.T2400C
c.T2502C
p.Y800Y
p.Y834Y
-2.499E-5Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RBBP6     1-0404-003chr16:
24562070-24562070
ATintronicDe novo--Trost2022 G
RBBP6     Wang2023:362chr16:
24582483-24582483
GCexonicDe novononsynonymous SNVNM_018703
NM_006910
c.G3994C
c.G4096C
p.E1332Q
p.E1366Q
15.5-Wang2023 E
RBBP6     3-0146-000chr16:
24579886-24579887
CTTCintronicDe novo--Trost2022 G
RBBP6     1-1128-003chr16:
24623555-24623555
GAintergenicDe novo--Trost2022 G
RBBP6     SP0032986chr16:
24582615-24582615
GCexonicDe novononsynonymous SNVNM_018703
NM_006910
c.G4126C
c.G4228C
p.V1376L
p.V1410L
3.818-Fu2022 E
Trost2022 G
Zhou2022 GE
RBBP6     SP0075755chr16:
24576228-24576228
TAintronicDe novo-8.681E-5Trost2022 G
RBBP6     SP0014861chr16:
24580173-24580173
GAexonicDe novononsynonymous SNVNM_018703
NM_006910
c.G2060A
c.G2162A
p.R687H
p.R721H
18.181.647E-5Fu2022 E
Zhou2022 GE
RBBP6     SP0034202chr16:
24583468-24583480
GCAGCCCCAGCGTGexonicnonframeshift deletionNM_018703
NM_006910
c.4980_4991del
c.5082_5093del
p.1660_1664del
p.1694_1698del
-2.0E-4Zhou2022 GE
RBBP6     7-0059-003chr16:
24579886-24579887
CTTCintronicDe novo--Trost2022 G
RBBP6     2-1644-003chr16:
24568219-24568220
TTAAintronicDe novo--Trost2022 G
RBBP6     REACH000171chr16:
24570149-24570150
TCTintronicDe novo--Trost2022 G
RBBP6     10-0010-003chr16:
24566808-24566808
GAintronicDe novo--Trost2022 G
RBBP6     3-0708-000chr16:
24568219-24568220
TTAAintronicDe novo--Trost2022 G
RBBP6     2-1188-003chr16:
24566099-24566099
GTintronicDe novo--Yuen2017 G
RBBP6     SP0040857chr16:
24560601-24560601
GCUTR3De novo--Fu2022 E
RBBP6     SP0036733chr16:
24583058-24583058
GCexonicDe novononsynonymous SNVNM_018703
NM_006910
c.G4569C
c.G4671C
p.E1523D
p.E1557D
6.969-Fu2022 E
Trost2022 G
Zhou2022 GE
RBBP6     SP0015463chr16:
24581211-24581211
CAexonicDe novononsynonymous SNVNM_018703
NM_006910
c.C3098A
c.C3200A
p.P1033Q
p.P1067Q
14.8-Fu2022 E
Trost2022 G
Zhou2022 GE
RBBP6     SP0142921chr16:
24557600-24557600
ACintronicDe novo--Fu2022 E
RBBP6     AU2283301chr16:
24645763-24645763
AGintergenicDe novo--Trost2022 G
RBBP6     SP0087382chr16:
24578587-24578587
AGexonicDe novosynonymous SNVNM_006910
NM_018703
c.A1713G
c.A1713G
p.T571T
p.T571T
-1.648E-5Fu2022 E
Trost2022 G
Zhou2022 GE
RBBP6     1-0956-003chr16:
24669019-24669019
AATTTGintergenicDe novo--Trost2022 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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