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Results for "ZNF90"

Variant Events: 12

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
ZNF90     2-1416-004chr19:
20273771-20273771
AGintergenicDe novo--Yuen2017 G
ZNF90     2-1383-003chr19:
20224075-20224075
ACintronicDe novo--Yuen2017 G
ZNF90     A18chr19:
20254255-20254255
GAintergenicDe novo--Wu2018 G
ZNF90     1-0010-005chr19:
20273771-20273771
AGintergenicDe novo--Yuen2017 G
ZNF90     AU3794301chr19:
20211860-20211860
CTintronicDe novo--Yuen2017 G
ZNF90     iHART1573chr19:
20215166-20215170
TCTTCTexonicPaternalframeshift deletionNM_007138c.123_126delp.V41fs-8.32E-6Ruzzo2019 G
ZNF90     2-1337-003chr19:
20267389-20267389
CTintergenicDe novo--Yuen2017 G
ZNF90     AU049304chr19:
20233714-20233715
CTCintergenicDe novo--Yuen2017 G
ZNF90     1-0446-003chr19:
20272466-20272466
CGintergenicDe novo--Yuen2017 G
ZNF90     2-0116-004chr19:
20235477-20235477
TAintergenicDe novo--Yuen2017 G
ZNF90     11470.p1chr19:
20229093-20229093
CTexonicDe novononsynonymous SNVNM_007138c.C730Tp.L244F10.29-Ji2016 E
Krumm2015 E
Satterstrom2020 E
ZNF90     7-0095-003chr19:
20273771-20273771
AGintergenicDe novo--Yuen2017 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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