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Results for "BRWD3"

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
BRWD3     P020chrX:
79975160-79975160
AGintronicMaternal--Long2019 ET
BRWD3     AU3053301chrX:
80277413-80277413
AGintergenicDe novo--Yuen2017 G
BRWD3     13798.p1chrX:
79945245-79945245
CTintronicDe novo--Krumm2015 E
Satterstrom2020 E
BRWD3     AU3302302chrX:
80081586-80081586
CTintergenicDe novo--Yuen2017 G
BRWD3     AU3997301chrX:
80243061-80243070
TTTTTTTTTGTintergenicDe novo--Yuen2017 G
BRWD3     AU026412chrX:
80177621-80177632
GAAAAAAAAAAAGAAAAAAAAAAintergenicDe novo--Yuen2017 G
BRWD3     AU2381302chrX:
80110514-80110514
CGintergenicDe novo--Yuen2017 G
BRWD3     1-0661-003chrX:
80334130-80334135
AAATAAAAAintergenicDe novo--Yuen2017 G
BRWD3     AU009805chrX:
80331320-80331320
CGintergenicDe novo--Yuen2017 G
BRWD3     AU2139301chrX:
80144534-80144534
ACintergenicDe novo--Yuen2017 G
BRWD3     09C83070chrX:
79999578-79999578
GAexonicDe novononsynonymous SNVNM_153252c.C766Tp.P256S24.4-Kosmicki2017 E
Satterstrom2020 E
BRWD3     AU3951302chrX:
80065256-80065261
AAAAGAAAupstreamDe novo--Yuen2017 G
BRWD3     2-1417-003chrX:
79948981-79948981
CTintronicDe novo--Yuen2017 G
BRWD3     2-1644-003chrX:
80279184-80279184
ACintergenicDe 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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