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Results for "ZNF335"

Variant Events: 10

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
ZNF335     A12chr20:
44596570-44596570
CTexonicDe novononsynonymous SNVNM_022095c.G617Ap.C206Y16.588.53E-6Wu2018 G
ZNF335     2-1605-003chr20:
44605306-44605306
CGintergenicDe novo--Yuen2017 G
ZNF335     2-1168-003chr20:
44600299-44600299
TCintronicDe novo--Yuen2016 G
ZNF335     A23chr20:
44596231-44596231
CTexonicDe novononsynonymous SNVNM_022095c.G857Ap.R286Q17.83.0E-4Wu2018 G
ZNF335     A10chr20:
44596394-44596394
GAexonicDe novononsynonymous SNVNM_022095c.C793Tp.R265W21.18.37E-6Wu2018 G
ZNF335     A10chr20:
44580824-44580824
CTexonicDe novononsynonymous SNVNM_022095c.G3151Ap.D1051N26.6-Wu2018 G
ZNF335     7-0223-003chr20:
44579416-44579416
GAintronicDe novo--Yuen2017 G
ZNF335     AU3703302chr20:
44580693-44580693
GAintronicDe novo--Yuen2017 G
ZNF335     11301.p1chr20:
44582508-44582508
GAexonicDe novononsynonymous SNVNM_022095c.C2522Tp.P841L15.13-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
ZNF335     SP0049129chr20:
44577680-44577680
AGexonicDe novononsynonymous SNVNM_022095c.T3941Cp.F1314S13.12-Feliciano2019 E
Source Variant Information

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Paper alias:

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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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