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Results for "PKD1L3"

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
PKD1L3     10255chr16:
71969320-71969320
GAexonicDe novounknown--Satterstrom2020 E
PKD1L3     1-0467-003chr16:
71991317-71991317
GAintronicDe novo--Yuen2017 G
PKD1L3     2-1173-003chr16:
71987923-71987923
TCintronicDe novo--Yuen2017 G
PKD1L3     11006.p1chr16:
71978060-71978060
CTexonicDe novounknown-4.568E-5Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
PKD1L3     12166.p1chr16:
72032271-72032271
GTexonicDe novounknown--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
PKD1L3     74-0115chr16:
71965114-71965114
GAintronicDe novo--Michaelson2012 G
PKD1L3     2-1244-003chr16:
71997000-71997000
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PKD1L3     AU2075301chr16:
71996392-71996393
TCTintronicDe novo--Yuen2017 G
PKD1L3     2-1619-003chr16:
72033157-72033157
GAintronicDe novo--Yuen2017 G
PKD1L3     2-1632-003chr16:
72027542-72027542
CTintronicDe novo--Yuen2017 G
PKD1L3     AU1933301chr16:
72032168-72032168
TGintronicDe 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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