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Results for "CRYBG3"

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
CRYBG3     M08458chr3:
97599944-97599944
CTexonicPaternalstopgainNM_153605c.C7033Tp.R2345X38.08.652E-6Guo2018 T
Wang2016 T
CRYBG3     1-0627-004chr3:
97610605-97610605
GAintronicDe novo--Yuen2017 G
CRYBG3     AU3761302chr3:
97586898-97586898
CAintronicDe novo--Yuen2017 G
CRYBG3     G01-GEA-330_HIchr3:
97593390-97593390
AGexonicDe novononsynonymous SNVNM_153605c.A3352Gp.I1118V1.758-Satterstrom2020 E
CRYBG3     11717.p1chr3:
97600077-97600077
AGintronicDe novo--Krumm2015 E
CRYBG3     GX0299.p1chr3:
97593884-97593885
AGAexonicPaternalframeshift deletionNM_153605c.3847delGp.V1283fs--Guo2018 T
CRYBG3     M18372 Complex Event; expand row to view variants  Unknownframeshift deletion, frameshift substitutionNM_153605
NM_153605
c.7302delC
c.7301_7302G
p.Y2434fs
N/A
--Guo2018 T
Wang2016 T
CRYBG3     14500.p1chr3:
97611837-97611841
TGTGATsplicingDe novosplicing-1.661E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
CRYBG3     M26445chr3:
97634457-97634459
GCTGexonicMaternalframeshift deletionNM_153605c.8119_8120delp.L2707fs--Guo2018 T
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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