Variant Results

or

or

Results for "ZFPM2"

Variant Events: 27

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

ZFPM2

AU1933302

chr8:
106713015-106713015

G

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

P1153

chr8:
106813565-106813565

G

A

exonic

De novo

nonsynonymous SNV

NM_012082

c.G1255A

p.E419K

11.1

Hashimoto2016 E

ZFPM2

AU3052302

chr8:
106639654-106639654

T

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

SSC00193

chr8:
106814868-106814868

A

G

exonic

De novo

nonsynonymous SNV

NM_012082

c.A2558G

p.Y853C

15.81

-

Fu2022 E
Lim2017 E

ZFPM2

2-1391-004

chr8:
106429261-106429261

C

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

1-0925-003

chr8:
106530218-106530218

A

G

intronic

De novo

-

-

Yuen2017 G

ZFPM2

1-0674-004

chr8:
106632388-106632388

T

C

intronic

De novo

-

-

Yuen2017 G

ZFPM2

AU3903301

chr8:
106412113-106412113

C

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

11442.p1

chr8:
106814868-106814868

A

G

exonic

De novo

nonsynonymous SNV

NM_012082

c.A2558G

p.Y853C

15.81

-

Ji2016 E
Krumm2015 E

ZFPM2

SP0092372

chr8:
106815037-106815037

C

T

exonic

De novo

synonymous SNV

NM_012082

c.C2727T

p.Y909Y

-

Fu2022 E

ZFPM2

7-0123-003

chr8:
106631772-106631772

T

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

SP0091545

chr8:
106813930-106813930

C

T

exonic

De novo

synonymous SNV

NM_012082

c.C1620T

p.Y540Y

-

-

Fu2022 E

ZFPM2

AU3903301

chr8:
106412360-106412360

A

T

intronic

De novo

-

-

Yuen2017 G

ZFPM2

14072.p1

chr8:
106815698-106815698

A

C

exonic

De novo

nonsynonymous SNV

NM_012082

c.A3388C

p.N1130H

16.07

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ZFPM2

14072_p1

chr8:
106815698-106815698

A

C

exonic

De novo

nonsynonymous SNV

NM_012082

c.A3388C

p.N1130H

16.07

-

Fu2022 E

ZFPM2

2-1397-003

chr8:
106525284-106525284

C

G

intronic

De novo

-

-

Yuen2017 G

ZFPM2

AU1725302

chr8:
106415994-106415994

T

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

1-0295-003

chr8:
106775167-106775167

T

A

intronic

De novo

-

-

Yuen2017 G

ZFPM2

AU3716302

chr8:
106502058-106502058

T

C

intronic

De novo

-

-

Yuen2017 G

ZFPM2

1-0259-005

chr8:
106453673-106453673

A

AAG

intronic

De novo

-

-

Yuen2017 G

ZFPM2

AU0540301

chr8:
106404295-106404295

T

G

intronic

De novo

-

-

Yuen2017 G

ZFPM2

1-0567-003

chr8:
106453681-106453681

A

AAG

intronic

De novo

-

-

Yuen2017 G

ZFPM2

1-0175-004

chr8:
106658322-106658322

C

CAT

intronic

De novo

-

-

Yuen2017 G

ZFPM2

AU056204

chr8:
106456436-106456436

T

G

intronic

De novo

-

-

Yuen2017 G

ZFPM2

2-0003-004

chr8:
106530167-106530167

C

T

intronic

De novo

-

-

Yuen2017 G

ZFPM2

AU012804

chr8:
106556301-106556301

A

G

intronic

De novo

-

-

Yuen2017 G

ZFPM2

2-0090-003

chr8:
106545790-106545790

C

T

intronic

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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