Variant Results

or

or

Results for "CBX1"

Variant Events: 11

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

CBX1

2-1723-003

chr17:
46151943-46151945

TAA

AAC

intronic

De novo

-

-

Trost2022 G

CBX1

5-0123-003

chr17:
46180487-46180487

C

T

intergenic

De novo

-

-

Yuen2017 G

CBX1

SP0022360

chr17:
46152445-46152446

GC

G

exonic

De novo

frameshift deletion

NM_001127228
NM_006807

c.335delG
c.335delG

p.G112fs
p.G112fs

-

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

CBX1

7-0334-003

chr17:
46175890-46175890

G

A

intronic

De novo

-

-

Trost2022 G

CBX1

1-0385-003

chr17:
46174934-46174934

G

A

intronic

De novo

-

-

Yuen2017 G

CBX1

1-1054-003

chr17:
46155092-46155092

C

A

intronic

De novo

-

-

Trost2022 G

CBX1

2-1764-004

chr17:
46159145-46159148

TAAG

T

intronic

De novo

-

-

Trost2022 G

CBX1

A12

chr17:
46153976-46153976

C

T

intronic

De novo

-

-

Wu2018 G

CBX1

1-0466-003

chr17:
46152092-46152092

G

T

intronic

De novo

-

-

Yuen2017 G

CBX1

74-0355

chr17:
46180534-46180534

A

C

intergenic

De novo

-

-

Michaelson2012 G

CBX1

SP0029270

chr17:
46178492-46178492

A

G

UTR5

De novo

-

-

Fu2022 E
Trost2022 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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