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Results for "ABL2"

Variant Events: 28

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     AU1987302chr1:
179137656-179137656		TAintronicDe novo--Trost2022 G
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     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     2-1408-004chr1:
179070536-179070536		GAUTR3De novo--Trost2022 G
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-Fu2022 E
Lim2017 E
Trost2022 G
ABL2     2-1425-003chr1:
179155947-179155947		TCintronicDe novo--Trost2022 G
Yuen2017 G
ABL2     AU4263304chr1:
179251957-179251957		CTintergenicDe novo--Yuen2017 G
ABL2     1-0244-003chr1:
179236508-179236508		GAintergenicDe novo--Yuen2017 G
ABL2     3-0078-000chr1:
179138393-179138393		TCintronicDe novo--Trost2022 G
ABL2     SP0129673chr1:
179078332-179078332		TGexonicDe novosynonymous SNVNM_001168236
NM_005158
NM_007314		c.A2007C
c.A2025C
c.A2070C		p.S669S
p.S675S
p.S690S		--Fu2022 E
ABL2     6238chr1:
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-5Trost2022 G
ABL2     mAGRE2373chr1:
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		--Cirnigliaro2023 G
ABL2     3-0294-000chr1:
179172106-179172106		AGintronicDe novo--Trost2022 G
ABL2     mAGRE2372chr1:
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		--Cirnigliaro2023 G
ABL2     3-0305-000chr1:
179170660-179170660		CAintronicDe novo--Trost2022 G
ABL2     mAGRE2370chr1:
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		--Cirnigliaro2023 G
ABL2     mAGRE2369chr1:
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		--Cirnigliaro2023 G
ABL2     AU1404302chr1:
179067621-179067621		TAdownstreamDe novo--Trost2022 G
ABL2     AU061003chr1:
179244803-179244803		CGintergenicDe novo--Yuen2017 G
ABL2     2-1246-003chr1:
179195778-179195780		GTACACintronicDe novo--Trost2022 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
Zhou2022 GE
ABL2     7-0311-003chr1:
179183373-179183373		TCintronicDe novo--Trost2022 G
ABL2     2-0145-003chr1:
179096676-179096676		GAintronicDe novo--Trost2022 G
Yuen2017 G
ABL2     A20chr1:
179234531-179234531		CTintergenicDe novo--Wu2018 G
ABL2     1-0006-003chr1:
179223791-179223791		CGintergenicDe novo--Yuen2017 G
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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