Variant Results

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Results for "RBBP6"

Variant Events: 14

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

1-0210-004

chr16:
24637188-24637188

G

T

intergenic

De novo

-

-

Yuen2017 G

RBBP6

200675713_1082034209

chr16:
24580513-24580513

T

C

exonic

De novo

synonymous SNV

NM_018703
NM_006910

c.T2400C
c.T2502C

p.Y800Y
p.Y834Y

-

Fu2022 E

RBBP6

Chen2017:116

chr16:
24580513-24580513

T

C

exonic

De novo

synonymous SNV

NM_018703
NM_006910

c.T2400C
c.T2502C

p.Y800Y
p.Y834Y

-

Chen2017 E

RBBP6

200675713@1082034209

chr16:
24580513-24580513

T

C

exonic

De novo

synonymous SNV

NM_018703
NM_006910

c.T2400C
c.T2502C

p.Y800Y
p.Y834Y

-

Satterstrom2020 E

RBBP6

SP0032986

chr16:
24582615-24582615

G

C

exonic

De novo

nonsynonymous SNV

NM_018703
NM_006910

c.G4126C
c.G4228C

p.V1376L
p.V1410L

3.818

-

Fu2022 E

RBBP6

SP0014861

chr16:
24580173-24580173

G

A

exonic

De novo

nonsynonymous SNV

NM_018703
NM_006910

c.G2060A
c.G2162A

p.R687H
p.R721H

18.18

Fu2022 E

RBBP6

1-0551-003

chr16:
24657358-24657358

A

G

intergenic

De novo

-

-

Yuen2017 G

RBBP6

2-1188-003

chr16:
24566099-24566099

G

T

intronic

De novo

-

-

Yuen2017 G

RBBP6

SP0040857

chr16:
24560601-24560601

G

C

UTR3

De novo

-

-

Fu2022 E

RBBP6

SP0036733

chr16:
24583058-24583058

G

C

exonic

De novo

nonsynonymous SNV

NM_018703
NM_006910

c.G4569C
c.G4671C

p.E1523D
p.E1557D

6.969

-

Fu2022 E

RBBP6

SP0015463

chr16:
24581211-24581211

C

A

exonic

De novo

nonsynonymous SNV

NM_018703
NM_006910

c.C3098A
c.C3200A

p.P1033Q
p.P1067Q

14.8

-

Fu2022 E

RBBP6

SP0142921

chr16:
24557600-24557600

A

C

intronic

De novo

-

-

Fu2022 E

RBBP6

AU3849302

chr16:
24567014-24567014

G

A

exonic

De novo

nonsynonymous SNV

NM_006910
NM_018703

c.G427A
c.G427A

p.D143N
p.D143N

25.7

Yuen2017 G

RBBP6

SP0087382

chr16:
24578587-24578587

A

G

exonic

De novo

synonymous SNV

NM_006910
NM_018703

c.A1713G
c.A1713G

p.T571T
p.T571T

-

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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