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Results for "PRPF8"

Variant Events: 11

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
PRPF8     11825.p1chr17:
1584115-1584115
GAexonicDe novononsynonymous SNVNM_006445c.C1003Tp.P335S19.768.237E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PRPF8     13999.p1chr17:
1582562-1582562
GAintronicMosaic-2.473E-5Dou2017 E
PRPF8     AU3712302chr17:
1580946-1580946
CTexonicDe novononsynonymous SNVNM_006445c.G1897Ap.G633S21.78.315E-6Yuen2017 G
PRPF8     AU2950302chr17:
1562371-1562371
GAintronicDe novo--Yuen2017 G
PRPF8     Lim2017:11015chr17:
1558836-1558836
GCexonicDe novononsynonymous SNVNM_006445c.C5795Gp.A1932G22.2-Lim2017 E
PRPF8     11387.p1chr17:
1561694-1561694
CTintronicMosaic Mat.--Dou2017 E
PRPF8     AU2100302chr17:
1580858-1580858
CGsplicingDe novosplicing24.6-Yuen2017 G
PRPF8     JASD_Fam0108chr17:
1561966-1561966
GAexonicDe novononsynonymous SNVNM_006445c.C5230Tp.R1744C20.9-Takata2018 E
PRPF8     AU070703chr17:
1597394-1597394
TCintergenicDe novo--Yuen2017 G
PRPF8     12838.p1chr17:
1563704-1563704
TCintronicDe novo--Krumm2015 E
Satterstrom2020 E
PRPF8     F1729-1chr17:
1563799-1563799
ACexonicDe novononsynonymous SNVNM_006445c.T4712Gp.I1571S20.8-Montenegro2019 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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