Variant Results

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Results for "ZNF486"

Variant Events: 18

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

ZNF486

7-0202-003

chr19:
20279895-20279895

A

G

intronic

De novo

-

-

Trost2022 G

ZNF486

MT_33.3

chr19:
20288636-20288636

C

A

intronic

De novo

-

-

Trost2022 G

ZNF486

7-0202-003

chr19:
20279877-20279877

T

C

intronic

De novo

-

-

Trost2022 G

ZNF486

7-0202-003

chr19:
20279883-20279883

T

CAG

intronic

De novo

-

-

Trost2022 G

ZNF486

2-1750-003

chr19:
20278076-20278076

T

C

UTR5

De novo

-

-

Trost2022 G

ZNF486

MSSNG00247-003

chr19:
20278348-20278348

C

T

intronic

De novo

-

-

Trost2022 G

ZNF486

1-0048-003

chr19:
20294103-20294103

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF486

AU073006

chr19:
20347953-20347954

TA

TAA

intergenic

De novo

-

-

Yuen2017 G

ZNF486

AU3692301

chr19:
20486002-20486002

T

C

intergenic

De novo

-

-

Yuen2017 G

ZNF486

MT_33.3

chr19:
20288650-20288650

G

C

intronic

De novo

-

-

Trost2022 G

ZNF486

1-0271-003

chr19:
20471023-20471023

T

C

intergenic

De novo

-

-

Yuen2017 G

ZNF486

1-0169-003

chr19:
20499898-20499898

T

A

intergenic

De novo

-

-

Yuen2017 G

ZNF486

1-0338-005

chr19:
20453353-20453353

G

C

intergenic

De novo

-

-

Yuen2017 G

ZNF486

AU4264302

chr19:
20408124-20408124

T

A

intergenic

De novo

-

-

Yuen2017 G

ZNF486

AU2109302

chr19:
20384047-20384049

TCC

TCCC

intergenic

De novo

-

-

Yuen2017 G

ZNF486

13769.p1

Complex Event; expand row to view variants

De novo

nonframeshift deletion, nonsynonymous SNV, nonframeshift substitution

NM_052852
NM_052852
NM_052852

c.173_175del
c.172_175T
c.C175T

p.58_59del
N/A
p.P59S

8.813

-

Ji2016 E
Krumm2015 E
Krupp2017 E

ZNF486

5-0105-003

chr19:
20497841-20497841

G

A

intergenic

De novo

-

-

Yuen2017 G

ZNF486

AU075207

chr19:
20293184-20293184

T

A

intronic

De novo

-

-

Trost2022 G
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 notes	View
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