Variant Results

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Results for "CBFA2T3"

Variant Events: 22

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

CBFA2T3

1-0465-003

chr16:
89041571-89041571

G

GATCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCC

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

AU2525302

chr16:
89034878-89034878

G

A

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

2-0116-004

chr16:
89041589-89041589

T

TGTCAGAGGTCCACCCTGATC

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

1-0339-004

chr16:
89041542-89041542

G

GACCTCCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTC

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

2-0299-003

chr16:
89112553-89112553

C

CCACCATCACCACCATCACCACCAT

intergenic

De novo

-

-

Yuen2017 G

CBFA2T3

AU3881301

chr16:
89107839-89107839

G

A

intergenic

De novo

-

-

Yuen2017 G

CBFA2T3

SP0001491

chr16:
88958738-88958738

G

A

exonic

De novo

nonsynonymous SNV

NM_175931
NM_005187

c.C277T
c.C535T

p.R93C
p.R179C

17.56

Feliciano2019 E

CBFA2T3

DEASD_1017_001

chr16:
88951655-88951655

G

A

exonic

De novo

nonsynonymous SNV

NM_175931
NM_005187

c.C658T
c.C916T

p.R220C
p.R306C

13.99

Satterstrom2020 E

CBFA2T3

2-1093-009

chr16:
89041619-89041619

C

CT

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

1-0354-006

chr16:
89041548-89041548

C

CCATGTCAGAGGTCCACCCTGATCCTCTGCTCCACATCTTT

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

AU030703

chr16:
88945000-88945000

C

T

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

AU063005

chr16:
89004850-89004850

A

C

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

1-0144-004

chr16:
89041650-89041650

G

GTCCA

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

2-1329-003

chr16:
88982711-88982719

TGTATGCGT

TGT

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

SP0003327

chr16:
88951543-88951543

C

T

exonic

De novo

nonsynonymous SNV

NM_175931
NM_005187

c.G770A
c.G1028A

p.R257H
p.R343H

23.0

Feliciano2019 E

CBFA2T3

AU3052303

chr16:
89018258-89018258

C

T

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

2-1416-003

chr16:
89118773-89118773

G

A

intergenic

De novo

-

-

Yuen2017 G

CBFA2T3

1-0325-003

chr16:
89071716-89071716

T

C

intergenic

De novo

-

-

Yuen2017 G

CBFA2T3

3-0438-000

chr16:
89116267-89116267

G

C

intergenic

De novo

-

-

Yuen2016 G

CBFA2T3

2-1303-003

chr16:
89158360-89158360

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CBFA2T3

1-0153-005

chr16:
89041542-89041542

G

GACCTGCAGCCATATCAAAGGGCCACCCTGATCCTCTGCTCCTC

intronic

De novo

-

-

Yuen2017 G

CBFA2T3

2-1174-005B

chr16:
89112572-89112572

A

ATCATCACCACCATCACCACCATCACCACCATCATCATCATCATCACCATC

intergenic

De novo

-

-

Yuen2017 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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