Variant Results

or

or

Results for "ADAP1"

Variant Events: 41

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

ADAP1

2-1475-003

chr7:
972017-972017

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ADAP1

14526.p1

chr7:
944768-944768

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869

c.G145A
c.G214A
c.G463A
c.G214A
c.G430A

p.G49R
p.G72R
p.G155R
p.G72R
p.G144R

24.6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Zhou2022 GE

ADAP1

1-0534-004

chr7:
970609-970609

G

C

intronic

De novo

-

-

Yuen2017 G

ADAP1

Wang2023:728

chr7:
938895-938895

C

T

exonic

De novo

nonsynonymous SNV

NM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869

c.G586A
c.G655A
c.G904A
c.G655A
c.G871A

p.A196T
p.A219T
p.A302T
p.A219T
p.A291T

19.1

-

Wang2023 E

ADAP1

SF0109099.p1

chr7:
944776-944776

C

T

exonic

nonsynonymous SNV

NM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869

c.G137A
c.G206A
c.G455A
c.G206A
c.G422A

p.R46Q
p.R69Q
p.R152Q
p.R69Q
p.R141Q

26.7

-

Wang2020 T

ADAP1

2-0704-003

chr7:
945138-945138

G

A

intronic

De novo

-

-

Yuen2017 G

ADAP1

SP0109099

chr7:
944776-944776

C

T

exonic

De novo

nonsynonymous SNV

NM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869

c.G137A
c.G206A
c.G455A
c.G206A
c.G422A

p.R46Q
p.R69Q
p.R152Q
p.R69Q
p.R141Q

26.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ADAP1

7-0095-004

chr7:
941955-941955

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ADAP1

AU4476302

chr7:
966500-966500

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ADAP1

1-0336-004

chr7:
970443-970443

A

ACT

intronic

De novo

-

-

Yuen2017 G

ADAP1

1-0901-003

chr7:
941966-941967

AT

GC

intronic

De novo

-

-

Trost2022 G

ADAP1

2-0214-004

chr7:
941975-941977

ATC

GTT

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0473-003

chr7:
941975-941977

ATC

GTT

intronic

De novo

-

-

Trost2022 G

ADAP1

Melbourne2_ASD_1698

chr7:
943910-943910

C

A

splicing

Unknown

splicing

8.4

-

Wang2020 T

ADAP1

2-0215-003

chr7:
941972-941972

G

A

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0901-003

chr7:
941975-941977

ATC

GTT

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0473-003

chr7:
941972-941972

G

A

intronic

De novo

-

-

Trost2022 G

ADAP1

7-0191-003

chr7:
941972-941972

G

A

intronic

De novo

-

-

Trost2022 G

ADAP1

7-0191-003

chr7:
941966-941967

AT

GC

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0901-003

chr7:
941972-941972

G

A

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0649-003

chr7:
943946-943946

C

T

intronic

De novo

-

Trost2022 G

ADAP1

1024

chr7:
945236-945236

A

G

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0162-004

chr7:
941955-941955

T

C

intronic

De novo

-

-

Yuen2017 G

ADAP1

2-0135-003

chr7:
942019-942021

AGG

CA

intronic

De novo

-

-

Trost2022 G

ADAP1

1-1038-003

chr7:
942043-942043

C

T

intronic

De novo

-

-

Trost2022 G

ADAP1

2-1275-003

chr7:
941975-941977

ATC

GTT

intronic

De novo

-

-

Trost2022 G

ADAP1

5-0134-003

chr7:
942019-942021

AGG

CA

intronic

De novo

-

-

Trost2022 G

ADAP1

7-0191-003

chr7:
941975-941977

ATC

GTT

intronic

De novo

-

-

Trost2022 G

ADAP1

2-0215-003

chr7:
941975-941977

ATC

GTT

intronic

De novo

-

-

Trost2022 G

ADAP1

12795.p1

chr7:
974092-974092

C

T

intronic

De novo

-

-

Turner2016 G

ADAP1

1-0565-003

chr7:
970377-970379

TGT

CCC

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0353-003

chr7:
970443-970443

A

ACT

intronic

De novo

-

-

Yuen2017 G

ADAP1

2-1456-004

chr7:
970602-970603

TC

CA

intronic

De novo

-

-

Trost2022 G

ADAP1

GEA423

chr7:
944776-944776

C

T

exonic

De novo

nonsynonymous SNV

NM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869

c.G137A
c.G206A
c.G455A
c.G206A
c.G422A

p.R46Q
p.R69Q
p.R152Q
p.R69Q
p.R141Q

26.7

-

Fu2022 E

ADAP1

1-0952-003

chr7:
970377-970379

TGT

CCC

intronic

De novo

-

-

Trost2022 G

ADAP1

36790

chr7:
944768-944768

C

T

exonic

De novo

nonsynonymous SNV

NM_001284311
NM_001284310
NM_001284308
NM_001284309
NM_006869

c.G145A
c.G214A
c.G463A
c.G214A
c.G430A

p.G49R
p.G72R
p.G155R
p.G72R
p.G144R

24.6

Fu2022 E
Trost2022 G

ADAP1

1-0158-003

chr7:
970377-970379

TGT

CCC

intronic

De novo

-

-

Trost2022 G

ADAP1

1-0045-004

chr7:
970377-970379

TGT

CCC

intronic

De novo

-

-

Trost2022 G

ADAP1

2-0132-004

chr7:
970377-970379

TGT

CCC

intronic

De novo

-

-

Trost2022 G

ADAP1

1-1109-003

chr7:
947221-947221

G

A

intronic

De novo

-

-

Trost2022 G

ADAP1

5-5123-003

chr7:
970107-970107

T

A

intronic

De novo

-

-

Trost2022 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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