Variant Results

or

Results for "ZNF862"

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

ZNF862

mAGRE2121

chr7:
149561356-149561357

GC

G

exonic

Paternal

frameshift deletion

NM_001099220

c.3494delC

p.A1165fs

-

Cirnigliaro2023 G

ZNF862

mAGRE1991

chr7:
149557473-149557474

GA

G

exonic

Paternal

frameshift deletion

NM_001099220

c.1225delA

p.N409fs

-

Cirnigliaro2023 G

ZNF862

14548.p1

chr7:
149544968-149544968

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001099220

c.G386A

p.R129K

5.621

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

ZNF862

36846

chr7:
149544968-149544968

G

A

exonic

De novo

nonsynonymous SNV

NM_001099220

c.G386A

p.R129K

5.621

-

Trost2022 G

ZNF862

2-0225-004

chr7:
149562244-149562246

CAT

TAG

UTR3

De novo

-

Trost2022 G

ZNF862

SP0139073

chr7:
149538224-149538224

A

C

intronic

De novo

-

Trost2022 G

ZNF862

SP0134561

chr7:
149547203-149547203

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

ZNF862

Lim2017:36846

chr7:
149544968-149544968

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001099220

c.G386A

p.R129K

5.621

-

Lim2017 E

ZNF862

10003091016769832-C

chr7:
149545163-149545163

C

T

exonic

De novo

nonsynonymous SNV

NM_001099220

c.C581T

p.A194V

18.1

-

Fu2022 E

ZNF862

iHART2121

chr7:
149561356-149561357

GC

G

exonic

Paternal

frameshift deletion

NM_001099220

c.3494delC

p.A1165fs

-

Ruzzo2019 G

ZNF862

iHART1991

chr7:
149557473-149557474

GA

G

exonic

Paternal

frameshift deletion

NM_001099220

c.1225delA

p.N409fs

-

Ruzzo2019 G

Source Variant Information

, -

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
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