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Results for "ZNF326"

Variant Events: 32

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
ZNF326     1-0075-003chr1:
90644186-90644186
ATintergenicDe novo--Yuen2017 G
ZNF326     2-1169-004chr1:
90953838-90953838
AGintergenicDe novo--Yuen2017 G
ZNF326     AU2139305chr1:
91160574-91160574
AGintergenicDe novo--Yuen2017 G
ZNF326     13964.p1chr1:
90505067-90505067
CTintergenicDe novo--Turner2016 G
ZNF326     2-1360-003chr1:
90483591-90483591
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ZNF326     2-1366-003chr1:
90548974-90548974
AGintergenicDe novo--Yuen2017 G
ZNF326     2-1509-003chr1:
90924740-90924740
TCintergenicDe novo--Yuen2017 G
ZNF326     1-0627-005chr1:
90973465-90973465
CAintergenicDe novo--Yuen2017 G
ZNF326     AU4444304chr1:
90751322-90751322
ACintergenicDe novo--Yuen2017 G
ZNF326     2-1437-004chr1:
90870017-90870017
CCACTATCTintergenicDe novo--Yuen2017 G
ZNF326     1-0772-003chr1:
91148884-91148884
GAintergenicDe novo--Yuen2017 G
ZNF326     1-0271-003chr1:
91054534-91054534
CTintergenicDe novo--Yuen2017 G
ZNF326     7-0140-003chr1:
91113355-91113355
TAintergenicDe novo--Yuen2017 G
ZNF326     AU3725302chr1:
90839360-90839360
AGintergenicDe novo--Yuen2017 G
ZNF326     2016-24201chr1:
90493021-90493022
GAGexonicframeshift deletionNM_182976c.1511delAp.D504fs--Callaghan2019 G
ZNF326     74-0075chr1:
90767562-90767562
GAintergenicDe novo--Michaelson2012 G
ZNF326     7-0119-003chr1:
90747862-90747862
GAintergenicDe novo--Yuen2017 G
ZNF326     AU058103chr1:
90716048-90716048
TCintergenicDe novo--Yuen2017 G
ZNF326     AU2433302chr1:
90776588-90776588
TCintergenicDe novo--Yuen2017 G
ZNF326     1-0272-003chr1:
90603979-90603979
CGintergenicDe novo--Yuen2017 G
ZNF326     7-0249-003chr1:
91077384-91077384
CAintergenicDe novo--Yuen2017 G
ZNF326     AU2075302chr1:
90665997-90665997
GCintergenicDe novo--Yuen2017 G
ZNF326     1-0009-004chr1:
90635055-90635055
AGintergenicDe novo--Yuen2017 G
ZNF326     AU051504chr1:
90487916-90487916
GAintronicDe novo--Yuen2017 G
ZNF326     G01-GEA-42-HIchr1:
90487829-90487833
AAGAGAexonicDe novoframeshift deletionNM_182976c.1327_1330delp.R443fs--Satterstrom2020 E
ZNF326     AU3839302chr1:
90706812-90706812
GAintergenicDe novo--Yuen2017 G
ZNF326     iHART1803chr1:
90493243-90493243
CTexonicMaternalstopgainNM_182976c.C1732Tp.Q578X33.0-Ruzzo2019 G
ZNF326     2-0273-003chr1:
90530770-90530770
GAintergenicDe novo--Yuen2017 G
ZNF326     5-0129-003chr1:
91165095-91165095
TCintergenicDe novo--Yuen2017 G
ZNF326     AU007503chr1:
90767562-90767562
GAintergenicDe novo--Yuen2017 G
ZNF326     1-0511-003chr1:
90635642-90635642
GCintergenicDe novo--Yuen2017 G
ZNF326     2-1296-003chr1:
90569221-90569221
CGintergenicDe 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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