Variant Results

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Results for "ZNF699"

Variant Events: 13

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

ZNF699

MSSNG00109-003

chr19:
9411695-9411695

T

C

intronic

De novo

-

-

Trost2022 G

ZNF699

2-1169-003

chr19:
9418782-9418782

A

G

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF699

13.s1

chr19:
9413073-9413073

G

A

exonic

De novo

synonymous SNV

NM_198535

c.C156T

p.F52F

-

-

An2014 E

ZNF699

mAGRE4609

chr19:
9407103-9407105

TTG

T

exonic

De novo

frameshift deletion

NM_198535

c.975_976del

p.H325fs

-

-

Cirnigliaro2023 G

ZNF699

mAGRE2932

chr19:
9406645-9406645

C

A

exonic

Paternal

stopgain

NM_198535

c.G1435T

p.E479X

25.3

-

Cirnigliaro2023 G

ZNF699

iHART2931

chr19:
9406645-9406645

C

A

exonic

Paternal

stopgain

NM_198535

c.G1435T

p.E479X

25.3

-

Ruzzo2019 G

ZNF699

iHART2932

chr19:
9406645-9406645

C

A

exonic

Paternal

stopgain

NM_198535

c.G1435T

p.E479X

25.3

-

Ruzzo2019 G

ZNF699

AU1795302

chr19:
9430273-9430273

G

A

intergenic

De novo

-

-

Yuen2017 G

ZNF699

2-1346-003

chr19:
9425996-9425996

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ZNF699

SP0074155

chr19:
9413130-9413130

C

T

exonic

De novo

stopgain

NM_198535

c.G99A

p.W33X

19.61

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ZNF699

mAGRE2931

chr19:
9406645-9406645

C

A

exonic

Paternal

stopgain

NM_198535

c.G1435T

p.E479X

25.3

-

Cirnigliaro2023 G

ZNF699

2-0244-003

chr19:
9420485-9420485

A

T

intergenic

De novo

-

-

Yuen2017 G

ZNF699

2-1329-003

chr19:
9423300-9423313

CCTCTCTCTCTCTC

CCTCTCTCTCTC

intergenic

De novo

-

-

Yuen2017 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
Curation notes	View
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