Variant Results

or

Results for "ABL1"

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

ABL1

13681.p1

chr9:
133759686-133759686

A

G

exonic

De novo

nonsynonymous SNV

NM_005157
NM_007313

c.A2009G
c.A2066G

p.N670S
p.N689S

12.12

4.0E-4

Satterstrom2020 E
Zhou2022 GE

ABL1

AU056003

chr9:
133601491-133601491

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABL1

AU056003

chr9:
133692605-133692605

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABL1

2-1148-004

chr9:
133706114-133706114

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABL1

SSC11872

chr9:
133730284-133730284

C

T

exonic

De novo

nonsynonymous SNV

NM_005157
NM_007313

c.C350T
c.C407T

p.T117M
p.T136M

33.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

ABL1

AU3912303

chr9:
133739545-133739545

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABL1

2-1170-003

chr9:
133643015-133643015

C

T

intronic

De novo

-

Yuen2017 G

ABL1

AU077A

chr9:
133730506-133730506

C

T

intronic

De novo

-

8.821E-6

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ABL1

2-1456-003

chr9:
133655822-133655822

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABL1

14373.p1

chr9:
133730284-133730284

C

T

exonic

De novo

nonsynonymous SNV

NM_005157
NM_007313

c.C350T
c.C407T

p.T117M
p.T136M

33.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ABL1

SP0012926

chr9:
133755916-133755916

G

A

exonic

De novo

nonsynonymous SNV

NM_005157
NM_007313

c.G1543A
c.G1600A

p.V515I
p.V534I

11.74

1.651E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ABL1

SP0013677

chr9:
133589909-133589909

T

TGTCGCAAGTACTGTTGTTCAAAGTTCC

intronic

De novo

-

Fu2022 E

ABL1

SP0081363

chr9:
133760698-133760698

A

C

exonic

De novo

synonymous SNV

NM_005157
NM_007313

c.A3021C
c.A3078C

p.S1007S
p.S1026S

-

Fu2022 E

ABL1

2-1645-003

chr9:
133676815-133676815

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ABL1

MT_67.3

chr9:
133684843-133684847

AAATT

A

intronic

De novo

-

Trost2022 G

ABL1

AU4173301

chr9:
133664657-133664657

T

C

intronic

De novo

-

Yuen2017 G

ABL1

AU4223302

chr9:
133606347-133606347

A

C

intronic

De novo

-

Yuen2017 G

ABL1

MSSNG00184-003

chr9:
133692060-133692060

A

G

intronic

De novo

-

Trost2022 G

ABL1

MSSNG00129-003

chr9:
133671416-133671416

T

C

intronic

De novo

-

Trost2022 G

ABL1

2-1619-004

chr9:
133677134-133677134

C

T

intronic

De novo

-

Trost2022 G

ABL1

REACH000423

chr9:
133605415-133605415

C

T

intronic

De novo

-

Trost2022 G

ABL1

4-0086-003

chr9:
133658419-133658419

C

G

intronic

De novo

-

Trost2022 G

ABL1

AU2792301

chr9:
133603135-133603135

A

C

intronic

De novo

-

Trost2022 G

ABL1

MSSNG00428-003

chr9:
133731801-133731801

G

T

intronic

De novo

-

Trost2022 G

ABL1

SSC09194

chr9:
133759686-133759686

A

G

exonic

De novo

nonsynonymous SNV

NM_005157
NM_007313

c.A2009G
c.A2066G

p.N670S
p.N689S

12.12

4.0E-4

Trost2022 G

ABL1

5-0001-003

chr9:
133702092-133702092

A

T

intronic

De novo

-

Trost2022 G

ABL1

1-0581-003

chr9:
133709774-133709774

C

T

intronic

De novo

-

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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