Variant Results

or

Results for "ZNF107"

Variant Events: 25

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

ZNF107

12175.p1

chr7:
64201850-64201850

G

A

intergenic

De novo

-

Turner2016 G

ZNF107

12175.p1

chr7:
64201852-64201852

C

G

intergenic

De novo

-

Turner2016 G

ZNF107

12175.p1

chr7:
64201871-64201871

G

T

intergenic

De novo

-

Turner2016 G

ZNF107

1-0006-004

chr7:
64132309-64132309

G

A

intronic

De novo

-

Yuen2017 G

ZNF107

1-0201-004

chr7:
64160738-64160742

CTCTG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF107

09C85024

chr7:
64126544-64126547

TCTC

T

UTR5

De novo

-

Neale2012 E

ZNF107

A5

chr7:
64138970-64138970

C

T

intronic

De novo

-

Wu2018 G

ZNF107

1-0935-003

chr7:
64152885-64152885

T

C

intronic

De novo

-

Yuen2017 G

ZNF107

AU4231301

chr7:
64196074-64196074

G

A

intergenic

De novo

-

Yuen2017 G

ZNF107

AU2951303

chr7:
64140218-64140218

G

C

intronic

De novo

-

Yuen2017 G

ZNF107

AU3913301

chr7:
64148677-64148677

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZNF107

10-0007-003

chr7:
64154228-64154228

G

A

intronic

De novo

-

Trost2022 G

ZNF107

mAGRE5965

chr7:
64168933-64168953

GGAGATTATGGCAGAGCTTTC

G

exonic

Maternal

frameshift deletion

NM_001282360
NM_001282359
NM_001013746
NM_016220

c.2363_2382del
c.2459_2478del
c.2252_2271del
c.2252_2271del

p.G788fs
p.G820fs
p.G751fs
p.G751fs

-

8.588E-6

Cirnigliaro2023 G

ZNF107

mAGRE5964

chr7:
64168933-64168953

GGAGATTATGGCAGAGCTTTC

G

exonic

Maternal

frameshift deletion

NM_001282360
NM_001282359
NM_001013746
NM_016220

c.2363_2382del
c.2459_2478del
c.2252_2271del
c.2252_2271del

p.G788fs
p.G820fs
p.G751fs
p.G751fs

-

8.588E-6

Cirnigliaro2023 G

ZNF107

2-1788-003

chr7:
64142649-64142649

C

T

intronic

De novo

-

Trost2022 G

ZNF107

REACH000671

chr7:
64146783-64146783

C

T

intronic

De novo

-

Trost2022 G

ZNF107

AU2951302

chr7:
64140218-64140218

G

C

intronic

De novo

-

Yuen2017 G

ZNF107

5-0009-003

chr7:
64129182-64129182

A

G

intronic

De novo

-

Trost2022 G

ZNF107

MSSNG00038-003

chr7:
64130490-64130490

G

A

intronic

De novo

-

Trost2022 G

ZNF107

5-0009-003

chr7:
64129157-64129157

T

A

intronic

De novo

-

Trost2022 G

ZNF107

400-08-110627

chr7:
64168531-64168531

T

TA

exonic

De novo

stopgain

NM_001282360
NM_001282359
NM_001013746
NM_016220

c.1961dupA
c.2057dupA
c.1850dupA
c.1850dupA

p.Y654_N655delinsX
p.Y686_N687delinsX
p.Y617_N618delinsX
p.Y617_N618delinsX

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ZNF107

EGAN00001100975

chr7:
64151716-64151719

GTGT

G

exonic

De novo

nonframeshift deletion

NM_001282359
NM_001282360

c.95_97del
c.95_97del

p.32_33del
p.32_33del

-

Fu2022 E

ZNF107

1-0720-003

chr7:
64213790-64213790

A

G

intergenic

De novo

-

Yuen2017 G

ZNF107

1-0269-003

chr7:
64217556-64217556

T

G

intergenic

De novo

-

Yuen2017 G

ZNF107

SP0055914

chr7:
64168752-64168752

A

G

exonic

De novo

synonymous SNV

NM_001282360
NM_001282359
NM_001013746
NM_016220

c.A2181G
c.A2277G
c.A2070G
c.A2070G

p.K727K
p.K759K
p.K690K
p.K690K

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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