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Results for "GAB4"

Variant Events: 14

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
GAB4     7-0346-003chr22:
17485379-17485379
GAintronicDe novo--Trost2022 G
GAB4     7-0068-003chr22:
17482685-17482685
CTintronicDe novo--Trost2022 G
GAB4     1-0756-004chr22:
17461201-17461201
ACintronicDe novo--Trost2022 G
Yuen2017 G
GAB4     3-0385-000chr22:
17473910-17473910
CTintronicDe novo--Trost2022 G
GAB4     JASD_Fam0175chr22:
17469020-17469020
GAexonicDe novosynonymous SNVNM_001037814c.C516Tp.L172L--Takata2018 E
GAB4     SP0027566chr22:
17443754-17443754
AGexonicDe novononsynonymous SNVNM_001037814c.T1594Cp.S532P15.238.358E-6Fu2022 E
Trost2022 G
Zhou2022 GE
GAB4     SP0031206chr22:
17450976-17450976
CTexonicDe novononsynonymous SNVNM_001037814c.G794Ap.G265D5.795-Fu2022 E
Trost2022 G
Zhou2022 GE
GAB4     2-1735-003chr22:
17490751-17490751
GAintergenicDe novo--Yuen2017 G
GAB4     1-0368-004chr22:
17455773-17455773
GAintronicDe novo--Trost2022 G
Yuen2017 G
GAB4     AU3636301chr22:
17500670-17500670
GTintergenicDe novo--Yuen2017 G
GAB4     AU4168306chr22:
17501680-17501680
TCintergenicDe novo--Yuen2017 G
GAB4     1-0382-004chr22:
17456318-17456318
GTintronicDe novo--Trost2022 G
Yuen2017 G
GAB4     NP050chr22:
17469020-17469020
GAexonicDe novosynonymous SNVNM_001037814c.C516Tp.L172L--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GAB4     2-1085-003chr22:
17491215-17491215
CTintergenicDe 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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