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Results for "ABI3BP"

Variant Events: 26

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
ABI3BP     1-0994-003chr3:
100702569-100702569
CTintronicDe novo--Yuen2017 G
ABI3BP     2-1297-003chr3:
100934936-100934936
TCintergenicDe novo--Yuen2017 G
ABI3BP     1-0488-003chr3:
100749526-100749526
AGintergenicDe novo--Yuen2017 G
ABI3BP     1-0551-004chr3:
100684939-100684939
CGintronicDe novo--Yuen2017 G
ABI3BP     12266.p1chr3:
100497185-100497185
GAexonicMosaicnonsynonymous SNVNM_015429c.C2143Tp.H715Y14.9-Dou2017 E
ABI3BP     29.s1chr3:
100555977-100555977
TCintronicDe novo8.64-An2014 E
ABI3BP     2-1397-003chr3:
100539214-100539214
CTintronicDe novo--Yuen2017 G
ABI3BP     11484.p1chr3:
100471643-100471643
CTexonicDe novononsynonymous SNVNM_015429c.G2977Ap.D993N34.05.828E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
ABI3BP     AU3698301chr3:
100642937-100642937
GAintronicDe novo--Yuen2017 G
ABI3BP     AU4435301chr3:
100829723-100829723
CTintergenicDe novo--Yuen2017 G
ABI3BP     2-0122-004chr3:
100746482-100746482
ACintergenicDe novo--Yuen2017 G
ABI3BP     13946.p1chr3:
100709374-100709374
TGintronicDe novo--Turner2016 G
ABI3BP     2-1195-003chr3:
100932566-100932570
GTTTCGintergenicDe novo--Yuen2016 G
ABI3BP     Cukier2014:18074chr3:
100585792-100585792
CTexonicUnknownnonsynonymous SNVNM_015429c.G940Ap.E314K22.80.0074Cukier2014 E
ABI3BP     1-0232-004chr3:
100922109-100922109
CTintergenicDe novo--Yuen2017 G
ABI3BP     5-0025-004chr3:
100570828-100570828
GAintronicDe novo--Yuen2017 G
ABI3BP     3-0246-000chr3:
100613059-100613059
GTintronicDe novo--Yuen2016 G
ABI3BP     AU4235303chr3:
100797226-100797226
GAintergenicDe novo--Yuen2017 G
ABI3BP     1-0534-006chr3:
100733157-100733157
CTintergenicDe novo--Yuen2017 G
ABI3BP     5-0128-003chr3:
100745441-100745441
GAintergenicDe novo--Yuen2017 G
ABI3BP     AU0146301chr3:
100904041-100904041
CTintergenicDe novo--Yuen2017 G
ABI3BP     1-0153-004chr3:
100931506-100931506
AGintergenicDe novo--Yuen2017 G
ABI3BP     1-0044-003chr3:
100647293-100647293
TCintronicDe novo--Yuen2017 G
ABI3BP     7-0143-003chr3:
100687524-100687531
CTTTTTTTCTTTTTTintronicDe novo--Yuen2017 G
ABI3BP     iHART1073chr3:
100593684-100593684
CCAATTAGTTCAAGACAsplicingMaternalsplicing-3.0E-4Ruzzo2019 G
ABI3BP     1-0935-003chr3:
100900046-100900046
TCintergenicDe 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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