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Results for "ZNF841"

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
ZNF841     SP0067737chr19:
52569185-52569185
CAexonicnonsynonymous SNVNM_001136499c.G1950Tp.E650D18.91-Zhou2022 GE
ZNF841     JASD_Fam0113chr19:
52569251-52569251
GAexonicDe novosynonymous SNVNM_001136499c.C1884Tp.N628N--Takata2018 E
ZNF841     2-1776-003chr19:
52598995-52598995
CTUTR5De novo--Trost2022 G
ZNF841     MSSNG00061-003chr19:
52597043-52597043
ACintronicDe novo--Trost2022 G
ZNF841     AU3782303chr19:
52597226-52597226
TAsplicingPaternalsplicing--Cirnigliaro2023 G
ZNF841     SP0043054chr19:
52568539-52568539
TCexonicDe novononsynonymous SNVNM_001136499c.A2596Gp.K866E0.386-Fu2022 E
Trost2022 G
Zhou2022 GE
ZNF841     3-0253-000chr19:
52592742-52592742
CAintronicDe novo--Trost2022 G
ZNF841     AU3782302chr19:
52597226-52597226
TAsplicingPaternalsplicing--Cirnigliaro2023 G
ZNF841     2-1508-004chr19:
52572794-52572794
GCintronicDe novo--Trost2022 G
Yuen2017 G
ZNF841     MSSNG00184-003chr19:
52580772-52580772
CTintronicDe novo--Trost2022 G
ZNF841     7-0260-003chr19:
52575818-52575818
GAintronicDe novo--Trost2022 G
Source Variant Information

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Source:

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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