Variant Results

or

Results for "ADNP2"

Variant Events: 15

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

ADNP2

014-09-110684

chr18:
77895638-77895638

A

G

exonic

De novo

nonsynonymous SNV

NM_014913

c.A2342G

p.D781G

11.78

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ADNP2

SP0087345

chr18:
77895919-77895919

T

C

exonic

De novo

nonsynonymous SNV

NM_014913

c.T2623C

p.S875P

3.744

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ADNP2

2-1288-003

chr18:
77882673-77882673

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ADNP2

12227.p1

chr18:
77896243-77896243

G

A

exonic

nonsynonymous SNV

NM_014913

c.G2947A

p.G983S

0.019

-

Zhou2022 GE

ADNP2

3-0080-000

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_014913
NM_014913

c.T2086G
c.T2086C

p.C696G
p.C696R

16.22

-

Tammimies2015 E
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

ADNP2

SP0311358

chr18:
77894087-77894087

C

T

exonic

nonsynonymous SNV

NM_014913

c.C791T

p.T264M

0.016

6.597E-5

Zhou2022 GE

ADNP2

13487.p1

chr18:
77894358-77894358

C

A

exonic

De novo

synonymous SNV

NM_014913

c.C1062A

p.P354P

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

ADNP2

1-0465-003

chr18:
77894642-77894660

TTCCTGCAGGCCAGATGAC

T

exonic

De novo

nonframeshift deletion

NM_014913

c.1347_1364del

p.449_455del

-

0.0066

Yuen2017 G

ADNP2

MSSNG00432-003

chr18:
77881904-77881904

C

T

intronic

De novo

-

Trost2022 G

ADNP2

MSSNG00336-003

chr18:
77867156-77867156

C

T

UTR5

De novo

-

Trost2022 G

ADNP2

MT_151.4

chr18:
77869195-77869195

A

G

intronic

De novo

-

Trost2022 G

ADNP2

152430

chr18:
77896663-77896663

C

A

exonic

De novo

nonsynonymous SNV

NM_014913

c.C3367A

p.H1123N

18.36

-

Fu2022 E

ADNP2

SSC07624

chr18:
77894358-77894358

C

A

exonic

De novo

synonymous SNV

NM_014913

c.C1062A

p.P354P

-

Fu2022 E
Trost2022 G

ADNP2

12550.p1

chr18:
77895204-77895204

G

A

exonic

De novo

synonymous SNV

NM_014913

c.G1908A

p.P636P

-

0.001

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

ADNP2

Disecmas_010P

chr18:
77893753-77893753

A

G

exonic

De novo

nonsynonymous SNV

NM_014913

c.A457G

p.I153V

3.543

8.243E-6

Fu2022 E

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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