Variant Results

or

Results for "ABL2"

Variant Events: 17

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

ABL2

2-1425-003

chr1:
179155947-179155947

T

C

intronic

De novo

-

Yuen2017 G

ABL2

AU1987302

chr1:
179137656-179137656

T

A

intronic

De novo

-

Yuen2017 G

ABL2

AU4263304

chr1:
179251957-179251957

C

T

intergenic

De novo

-

Yuen2017 G

ABL2

1-0244-003

chr1:
179236508-179236508

G

A

intergenic

De novo

-

Yuen2017 G

ABL2

SP0129673

chr1:
179078332-179078332

T

G

exonic

De novo

synonymous SNV

NM_001168236
NM_005158
NM_007314

c.A2007C
c.A2025C
c.A2070C

p.S669S
p.S675S
p.S690S

-

Fu2022 E

ABL2

iHART2370

chr1:
179077575-179077576

GA

G

exonic

Maternal

frameshift deletion

NM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237

c.2763delT
c.2454delT
c.2409delT
c.2781delT
c.2826delT
c.2472delT
c.2517delT

p.T921fs
p.T818fs
p.T803fs
p.T927fs
p.T942fs
p.T824fs
p.T839fs

-

Ruzzo2019 G

ABL2

iHART2373

chr1:
179077575-179077576

GA

G

exonic

Maternal

frameshift deletion

NM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237

c.2763delT
c.2454delT
c.2409delT
c.2781delT
c.2826delT
c.2472delT
c.2517delT

p.T921fs
p.T818fs
p.T803fs
p.T927fs
p.T942fs
p.T824fs
p.T839fs

-

Ruzzo2019 G

ABL2

iHART2369

chr1:
179077575-179077576

GA

G

exonic

Maternal

frameshift deletion

NM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237

c.2763delT
c.2454delT
c.2409delT
c.2781delT
c.2826delT
c.2472delT
c.2517delT

p.T921fs
p.T818fs
p.T803fs
p.T927fs
p.T942fs
p.T824fs
p.T839fs

-

Ruzzo2019 G

ABL2

iHART2372

chr1:
179077575-179077576

GA

G

exonic

Maternal

frameshift deletion

NM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237

c.2763delT
c.2454delT
c.2409delT
c.2781delT
c.2826delT
c.2472delT
c.2517delT

p.T921fs
p.T818fs
p.T803fs
p.T927fs
p.T942fs
p.T824fs
p.T839fs

-

Ruzzo2019 G

ABL2

AU061003

chr1:
179244803-179244803

C

G

intergenic

De novo

-

Yuen2017 G

ABL2

14242.p1

chr1:
179077107-179077107

C

T

exonic

De novo

nonsynonymous SNV

NM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237

c.G3232A
c.G2923A
c.G2878A
c.G3250A
c.G3295A
c.G2941A
c.G2986A

p.A1078T
p.A975T
p.A960T
p.A1084T
p.A1099T
p.A981T
p.A996T

20.9

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

ABL2

2-0145-003

chr1:
179096676-179096676

G

A

intronic

De novo

-

Yuen2017 G

ABL2

12161.p1

chr1:
179090932-179090932

T

C

exonic

De novo

nonsynonymous SNV

NM_001136001
NM_001168236
NM_001168238
NM_001168239
NM_001136000
NM_001168237
NM_005158
NM_007314

c.A695G
c.A695G
c.A695G
c.A650G
c.A713G
c.A758G
c.A713G
c.A758G

p.D232G
p.D232G
p.D232G
p.D217G
p.D238G
p.D253G
p.D238G
p.D253G

25.3

1.657E-5

Satterstrom2020 E

ABL2

A20

chr1:
179234531-179234531

C

T

intergenic

De novo

-

Wu2018 G

ABL2

2-1408-004

chr1:
179070536-179070536

G

A

UTR3

De novo

-

Yuen2017 G

ABL2

1-0006-003

chr1:
179223791-179223791

C

G

intergenic

De novo

-

Yuen2017 G

ABL2

SSC11000

chr1:
179077107-179077107

C

T

exonic

De novo

nonsynonymous SNV

NM_001168236
NM_001168238
NM_001168239
NM_005158
NM_007314
NM_001136000
NM_001168237

c.G3232A
c.G2923A
c.G2878A
c.G3250A
c.G3295A
c.G2941A
c.G2986A

p.A1078T
p.A975T
p.A960T
p.A1084T
p.A1099T
p.A981T
p.A996T

20.9

-

Fu2022 E
Lim2017 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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