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Results for "ABL2"

Variant Events: 16

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     2-1425-003chr1:
179155947-179155947
TCintronicDe novo--Yuen2017 G
ABL2     AU1987302chr1:
179137656-179137656
TAintronicDe novo--Yuen2017 G
ABL2     AU4263304chr1:
179251957-179251957
CTintergenicDe novo--Yuen2017 G
ABL2     1-0244-003chr1:
179236508-179236508
GAintergenicDe novo--Yuen2017 G
ABL2     iHART2370chr1:
179077575-179077576
GAGexonicMaternalframeshift deletionNM_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     iHART2373chr1:
179077575-179077576
GAGexonicMaternalframeshift deletionNM_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     iHART2369chr1:
179077575-179077576
GAGexonicMaternalframeshift deletionNM_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     iHART2372chr1:
179077575-179077576
GAGexonicMaternalframeshift deletionNM_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     AU061003chr1:
179244803-179244803
CGintergenicDe novo--Yuen2017 G
ABL2     14242.p1chr1:
179077107-179077107
CTexonicDe novononsynonymous SNVNM_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     2-0145-003chr1:
179096676-179096676
GAintronicDe novo--Yuen2017 G
ABL2     12161.p1chr1:
179090932-179090932
TCexonicDe novononsynonymous SNVNM_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
25.31.657E-5Satterstrom2020 E
ABL2     A20chr1:
179234531-179234531
CTintergenicDe novo--Wu2018 G
ABL2     2-1408-004chr1:
179070536-179070536
GAUTR3De novo--Yuen2017 G
ABL2     1-0006-003chr1:
179223791-179223791
CGintergenicDe novo--Yuen2017 G
ABL2     SSC11000chr1:
179077107-179077107
CTexonicDe novononsynonymous SNVNM_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-Lim2017 E
Source Variant Information

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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 notesView
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