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Results for "AFF3"

Variant Events: 39

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
AFF3     AU007503chr2:
100265101-100265101
AGintronicDe novo--Yuen2017 G
AFF3     2-1411-003chr2:
100659907-100659907
CTintronicDe novo--Yuen2017 G
AFF3     AU1940304chr2:
100401142-100401142
TAintronicDe novo--Yuen2017 G
AFF3     AU2381302chr2:
100783067-100783067
TGintergenicDe novo--Yuen2017 G
AFF3     1-0534-003chr2:
100812549-100812549
TCintergenicDe novo--Yuen2017 G
AFF3     1-0010-005chr2:
100360983-100360983
TCintronicDe novo--Yuen2017 G
AFF3     1-0473-003chr2:
100492936-100492936
TCintronicDe novo--Yuen2017 G
AFF3     2-1276-003chr2:
100591507-100591507
CAintronicDe novo--Yuen2016 G
Yuen2017 G
AFF3     AU2019302chr2:
100390758-100390758
CTintronicDe novo--Yuen2017 G
AFF3     AU3680302chr2:
100645221-100645221
CTintronicDe novo--Yuen2017 G
AFF3     2-0323-004chr2:
100246764-100246764
GAintronicDe novo--Yuen2017 G
AFF3     2-0126-004chr2:
100634970-100634970
GTintronicDe novo--Yuen2017 G
AFF3     7-0002-003chr2:
100793102-100793102
TCintergenicDe novo--Yuen2017 G
AFF3     AU024104chr2:
100641334-100641334
TGintronicDe novo--Yuen2017 G
AFF3     1-0273-004chr2:
100633282-100633282
GGATGGCAintronicDe novo--Yuen2017 G
AFF3     AU3610302chr2:
100606462-100606462
AGintronicDe novo--Yuen2017 G
AFF3     2-1514-003chr2:
100682806-100682806
CTintronicDe novo--Yuen2017 G
AFF3     AU4234302chr2:
100389232-100389232
AGintronicDe novo--Yuen2017 G
AFF3     74-0075chr2:
100265101-100265101
AGintronicDe novo--Michaelson2012 G
AFF3     1-0383-003chr2:
100251923-100251940
TTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTintronicDe novo--Yuen2017 G
AFF3     7-0133-003chr2:
100437472-100437472
TCintronicDe novo--Yuen2017 G
AFF3     AU2109302chr2:
100574460-100574460
TCintronicDe novo--Yuen2017 G
AFF3     2-1184-003chr2:
100344315-100344315
CTintronicDe novo--Yuen2016 G
Yuen2017 G
AFF3     1-0546-003chr2:
100732931-100732931
GAintronicDe novo--Yuen2017 G
AFF3     1-0585-003chr2:
100251281-100251281
AGintronicDe novo--Yuen2017 G
AFF3     2-1085-004chr2:
100230574-100230574
TGintronicDe novo--Yuen2017 G
AFF3     2-1461-003chr2:
100308757-100308757
CTintronicDe novo--Yuen2016 G
Yuen2017 G
AFF3     2-1438-003chr2:
100340821-100340821
GAintronicDe novo--Yuen2016 G
Yuen2017 G
AFF3     2-1416-004chr2:
100631232-100631233
ACAintronicDe novo--Yuen2017 G
AFF3     2-1629-003chr2:
100365078-100365078
GAintronicDe novo--Yuen2017 G
AFF3     2-1188-003chr2:
100355596-100355596
AGintronicDe novo--Yuen2017 G
AFF3     2-1416-003chr2:
100631232-100631233
ACAintronicDe novo--Yuen2017 G
AFF3     3E467chr2:
100623255-100623255
TCexonicDe novononsynonymous SNVNM_001025108
NM_002285
c.A787G
c.A712G
p.M263V
p.M238V
16.13-Satterstrom2020 E
AFF3     NDAR_INVWJ774DL8_wes1chr2:
100171213-100171213
AGintronicDe novo-0.0098Kosmicki2017 E
Satterstrom2020 E
AFF3     A28chr2:
100417666-100417666
GAintronicDe novo--Wu2018 G
AFF3     1-0271-004chr2:
100778255-100778255
TCintergenicDe novo--Yuen2017 G
AFF3     AU3371302chr2:
100221385-100221385
CTintronicDe novo--Yuen2017 G
AFF3     SP0015356chr2:
100210613-100210614
CGCexonicDe novoframeshift deletionNM_001025108
NM_002285
c.1584delC
c.1509delC
p.D528fs
p.D503fs
--Feliciano2019 E
AFF3     1-0150-004chr2:
100539892-100539892
GTintronicDe 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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