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Results for "PRPF4B"

Variant Events: 9

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
PRPF4B     2-1308-003chr6:
4027309-4027309
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PRPF4B     2-1425-004chr6:
4030601-4030601
GAintronicDe novo--Yuen2017 G
PRPF4B     1-0285-003chr6:
4022200-4022200
TTCACintronicDe novo--Yuen2017 G
PRPF4B     Lim2017:10142chr6:
4050046-4050046
CTexonicDe novostopgainNM_003913c.C2107Tp.R703X40.0-Lim2017 E
PRPF4B     10142chr6:
4050046-4050046
CTexonicDe novostopgainNM_003913c.C2107Tp.R703X40.0-Satterstrom2020 E
PRPF4B     12758.p1chr6:
4049347-4049347
TCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
PRPF4B     ASC_CA_191_Achr6:
4032408-4032408
GAexonicDe novosynonymous SNVNM_003913c.G657Ap.E219E--Satterstrom2020 E
PRPF4B     3-0661-000chr6:
4063235-4063235
ACUTR3De novo--Yuen2017 G
PRPF4B     2C605chr6:
4032347-4032347
AAGGGGGGTATTexonicDe novoframeshift insertionNM_003913c.596_597insGGGGGGTATTp.K199fs--Satterstrom2020 E
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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