Variant Results

or

or

Results for "ZNF678"

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

ZNF678

1-0044-003

chr1:
227794436-227794436

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZNF678

2-1066-004

chr1:
227854931-227854931

T

TTTG

intergenic

De novo

-

-

Yuen2017 G

ZNF678

13104.p1

chr1:
227843134-227843134

C

A

exonic

De novo

nonsynonymous SNV

NM_178549

c.C1348A

p.H450N

12.44

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

ZNF678

MSSNG00002-004

chr1:
227850583-227850583

T

C

downstream

De novo

-

-

Trost2022 G

ZNF678

SSC06810

chr1:
227843134-227843134

C

A

exonic

De novo

nonsynonymous SNV

NM_178549

c.C1348A

p.H450N

12.44

-

Fu2022 E
Lim2017 E
Trost2022 G

ZNF678

mAGRE5109

chr1:
227842297-227842313

AAGAGAATTCATACTGG

A

exonic

Maternal

frameshift deletion

NM_178549

c.512_527del

p.K171fs

-

Cirnigliaro2023 G

ZNF678

AU2463301

chr1:
227814117-227814117

G

A

intronic

De novo

-

-

Trost2022 G

ZNF678

1-0496-003

chr1:
227751497-227751497

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZNF678

2-1254-003

chr1:
227801543-227801543

C

T

intronic

De novo

-

-

Yuen2017 G

ZNF678

3-0193-000

chr1:
227755404-227755404

T

G

intronic

De novo

-

-

Trost2022 G

ZNF678

SP0250836

chr1:
227843413-227843413

C

T

exonic

De novo

nonsynonymous SNV

NM_178549

c.C1627T

p.R543C

6.727

Trost2022 G

ZNF678

1-1050-003

chr1:
227828438-227828438

C

G

intronic

De novo

-

-

Trost2022 G

ZNF678

AU1725302

chr1:
227826722-227826722

G

A

intronic

De novo

-

-

Trost2022 G
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
	More