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Results for "GATAD2B"

Variant Events: 15

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
GATAD2B     2-1299-003chr1:
153860533-153860533
ATintronicDe novo--Yuen2017 G
GATAD2B     2-1438-003chr1:
153843004-153843004
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GATAD2B     2-1116-003chr1:
153872426-153872426
TCintronicDe novo--Yuen2017 G
GATAD2B     05C51810chr1:
153785766-153785766
CTexonicUnknownnonsynonymous SNVNM_020699c.G1379Ap.R460Q35.0-Wang2020 T
Wang2020 T
GATAD2B     SF0077254.p1chr1:
153862157-153862157
TGintronicDe novo--Wang2020 T
GATAD2B     Y6G2Uchr1:
153784297-153784297
GAexonicUnknownnonsynonymous SNVNM_020699c.C1558Tp.R520C35.08.306E-6Wang2020 T
Wang2020 T
GATAD2B     SF0106988.p1chr1:
153862157-153862157
TGintronicDe novo--Wang2020 T
GATAD2B     61056333chr1:
153784297-153784297
GAexonicUnknownnonsynonymous SNVNM_020699c.C1558Tp.R520C35.08.306E-6Wang2020 T
Wang2020 T
Wang2020 T
GATAD2B     69chr1:
153785737-153785737
GAexonicDe novostopgainNM_020699c.C1408Tp.Q470X39.0-O’Roak2014 T
GATAD2B     2-0298-003chr1:
153893589-153893589
GTintronicDe novo--Yuen2017 G
GATAD2B     05C51811chr1:
153785766-153785766
CTexonicUnknownnonsynonymous SNVNM_020699c.G1379Ap.R460Q35.0-Wang2020 T
Wang2020 T
Wang2020 T
GATAD2B     1-0507-003chr1:
153826759-153826759
GTintronicDe novo--Yuen2017 G
GATAD2B     AU065304chr1:
153844548-153844548
CTintronicDe novo--Yuen2017 G
GATAD2B     256960chr1:
153782742-153782743
CTCexonicUnknownframeshift deletionNM_020699c.1692delAp.K564fs--Wang2020 T
Wang2020 T
GATAD2B     AU4343302chr1:
153894723-153894723
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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