Variant Results

or

Results for "ADGRV1"

Variant Events: 69

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

ADGRV1

SSC06607

chr5:
89923398-89923398

A

T

exonic

De novo

nonsynonymous SNV

NM_032119

c.A1043T

p.D348V

25.5

-

Fu2022 E
Lim2017 E

ADGRV1

13856.p1

chr5:
89918495-89918495

G

A

exonic

Mosaic

nonsynonymous SNV

NM_032119

c.G535A

p.G179R

34.0

1.911E-5

Dou2017 E

ADGRV1

SSC06014

chr5:
90144469-90144469

A

G

exonic

De novo

nonsynonymous SNV

NM_032119

c.A17035G

p.K5679E

9.125

-

Lim2017 E

ADGRV1

SSC02682

chr5:
89949288-89949288

G

A

exonic

De novo

nonsynonymous SNV

NM_032119

c.G3897A

p.M1299I

15.56

-

Fu2022 E
Lim2017 E

ADGRV1

AU3859301

chr5:
90060419-90060419

G

A

intronic

De novo

-

Yuen2017 G

ADGRV1

2-1635-004

chr5:
89897004-89897004

A

T

intronic

De novo

-

Yuen2017 G

ADGRV1

AU2525302

chr5:
90255650-90255650

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

AU3809302

chr5:
89953530-89953530

T

G

intronic

De novo

-

Yuen2017 G

ADGRV1

74-0115

chr5:
90449225-90449225

A

T

intronic

De novo

-

Michaelson2012 G

ADGRV1

74-0115

chr5:
90449167-90449167

G

A

exonic

De novo

nonsynonymous SNV

NM_032119

c.G18754A

p.D6252N

24.5

1.0E-4

Michaelson2012 G

ADGRV1

1-0898-003

chr5:
90125726-90125726

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

3-0434-000

chr5:
90314633-90314633

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRV1

AU1521301

chr5:
90224731-90224731

G

A

intronic

De novo

-

Yuen2017 G

ADGRV1

C209003

chr5:
89968443-89968443

C

G

exonic

De novo

synonymous SNV

NM_032119

c.C4833G

p.T1611T

-

Fu2022 E

ADGRV1

AU4379301

chr5:
90250366-90250366

C

T

intronic

De novo

-

Yuen2017 G

ADGRV1

AU3765303

chr5:
89946427-89946427

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

98HI0379A

chr5:
90449167-90449167

G

A

exonic

De novo

nonsynonymous SNV

NM_032119

c.G18754A

p.D6252N

24.5

1.0E-4

Satterstrom2020 E

ADGRV1

1-0059-003

chr5:
90006397-90006397

T

G

intronic

De novo

-

Yuen2017 G

ADGRV1

1-0627-004

chr5:
90536255-90536255

C

A

intergenic

De novo

-

Yuen2017 G

ADGRV1

1-0559-003

chr5:
89945819-89945819

T

TAA

intronic

De novo

-

Yuen2017 G

ADGRV1

5-0147-003

chr5:
90487233-90487233

A

G

intergenic

De novo

-

Yuen2017 G

ADGRV1

AU1687302

chr5:
90064161-90064161

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

3-0446-000

chr5:
90284857-90284857

T

C

intronic

De novo

-

Yuen2017 G

ADGRV1

AU4186302

chr5:
90478690-90478690

C

G

intergenic

De novo

-

Yuen2017 G

ADGRV1

2-1182-003

chr5:
90281353-90281353

G

A

intronic

De novo

-

8.373E-6

Yuen2016 G
Yuen2017 G

ADGRV1

1-0638-003

chr5:
89945686-89945705

TGAGAGAGAGAGAGAGAGAG

TGAGAGAGAGAGAGAGAG

intronic

De novo

-

Yuen2017 G

ADGRV1

iHART1669

chr5:
90004686-90004687

AC

A

exonic

Paternal

frameshift deletion

NM_032119

c.8785delC

p.L2929fs

-

8.284E-6

Ruzzo2019 G

ADGRV1

iHART1668

chr5:
90004686-90004687

AC

A

exonic

Paternal

frameshift deletion

NM_032119

c.8785delC

p.L2929fs

-

8.284E-6

Ruzzo2019 G

ADGRV1

iHART2676

chr5:
90151630-90151632

CAT

C

exonic

Paternal

frameshift deletion

NM_032119

c.17668_17669del

p.M5890fs

-

2.488E-5

Ruzzo2019 G

ADGRV1

iHART1192

chr5:
90106341-90106341

A

AT

exonic

Paternal

frameshift insertion

NM_032119

c.15265dupT

p.E5088fs

-

Ruzzo2019 G

ADGRV1

iHART1931

chr5:
89938703-89938703

C

T

exonic

Maternal

stopgain

NM_032119

c.C2398T

p.R800X

39.0

2.507E-5

Ruzzo2019 G

ADGRV1

1-0367-003

chr5:
90074020-90074037

CGTGTGTGTGTGTGTGTG

CGTGTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

ADGRV1

iHART2872

chr5:
89968540-89968540

G

A

splicing

Paternal

splicing

24.9

-

Ruzzo2019 G

ADGRV1

AU4149301

chr5:
90467470-90467470

T

C

intergenic

De novo

-

Yuen2017 G

ADGRV1

iHART1930

chr5:
89938703-89938703

C

T

exonic

Maternal

stopgain

NM_032119

c.C2398T

p.R800X

39.0

2.507E-5

Ruzzo2019 G

ADGRV1

2-1486-003

chr5:
89869668-89869668

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRV1

AU066206

chr5:
90514482-90514482

A

G

intergenic

De novo

-

Yuen2017 G

ADGRV1

1-0627-006

chr5:
90030321-90030321

G

T

intronic

De novo

-

Yuen2017 G

ADGRV1

2-1632-003

chr5:
90010496-90010496

T

A

intronic

De novo

-

Yuen2017 G

ADGRV1

AU2293301

chr5:
89958873-89958873

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

Hu2022:76

chr5:
90074281-90074281

A

G

exonic

Unknown

nonsynonymous SNV

NM_032119

c.A12704G

p.Y4235C

14.59

2.0E-4

Hu2022 T

ADGRV1

SP0009874

chr5:
90012409-90012409

G

A

exonic

De novo

nonsynonymous SNV

NM_032119

c.G9310A

p.V3104I

8.881

-

Feliciano2019 E
Fu2022 E

ADGRV1

Hu2022:76

chr5:
89954046-89954046

G

A

exonic

Unknown

nonsynonymous SNV

NM_032119

c.G4703A

p.S1568N

26.2

6.327E-5

Hu2022 T

ADGRV1

12832.p1

chr5:
90144469-90144469

A

G

exonic

De novo

nonsynonymous SNV

NM_032119

c.A17035G

p.K5679E

9.125

-

Krumm2015 E
Satterstrom2020 E
Wilfert2021 G

ADGRV1

AU017704

chr5:
90133940-90133940

T

C

intronic

De novo

-

Yuen2017 G

ADGRV1

12852.p1

chr5:
89923398-89923398

A

T

exonic

De novo

nonsynonymous SNV

NM_032119

c.A1043T

p.D348V

25.5

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

ADGRV1

A9

chr5:
89895585-89895585

A

G

intronic

De novo

-

Wu2018 G

ADGRV1

AU017704

chr5:
90449997-90449997

T

C

intronic

De novo

-

Yuen2017 G

ADGRV1

1-0294-003

chr5:
90492841-90492841

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ADGRV1

2-0109-003

chr5:
90527454-90527454

C

T

intergenic

De novo

-

Yuen2017 G

ADGRV1

SP0046030

chr5:
89980007-89980007

G

A

exonic

De novo

nonsynonymous SNV

NM_032119

c.G6269A

p.R2090H

14.77

1.0E-4

Fu2022 E

ADGRV1

AU1448301

chr5:
90319786-90319786

G

T

intronic

De novo

-

Yuen2017 G

ADGRV1

SP0144763

chr5:
90459648-90459648

G

C

exonic

De novo

nonsynonymous SNV

NM_032119

c.G18852C

p.E6284D

8.53

3.481E-5

Fu2022 E

ADGRV1

SP0083156

chr5:
89913770-89913770

G

C

exonic

De novo

nonsynonymous SNV

NM_032119

c.G357C

p.Q119H

14.47

-

Fu2022 E

ADGRV1

SP0033756

chr5:
90098576-90098576

T

C

exonic

De novo

synonymous SNV

NM_032119

c.T14538C

p.S4846S

-

Fu2022 E

ADGRV1

SP0074684

chr5:
89988477-89988477

G

A

exonic

De novo

nonsynonymous SNV

NM_032119

c.G7007A

p.R2336Q

14.45

8.475E-5

Fu2022 E

ADGRV1

1-0568-003

chr5:
90198723-90198723

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

14590.p1

chr5:
90123942-90123942

A

G

intronic

De novo

-

Turner2016 G

ADGRV1

11572.p1

chr5:
90266383-90266383

G

A

intronic

De novo

-

Turner2016 G

ADGRV1

7-0148-003

chr5:
90098051-90098051

G

A

intronic

De novo

-

Yuen2017 G

ADGRV1

09C99813

chr5:
90281353-90281353

G

A

intronic

De novo

-

8.373E-6

Satterstrom2020 E

ADGRV1

11484.p1

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_032119
NM_032119

c.G3897A
c.G3897C

p.M1299I
p.M1299I

15.56

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G

ADGRV1

AU1687303

chr5:
90064161-90064161

A

G

intronic

De novo

-

Yuen2017 G

ADGRV1

2-0307-003

chr5:
89888857-89888857

T

C

intronic

De novo

-

Yuen2017 G

ADGRV1

AU1995302

chr5:
90039405-90039405

C

T

intronic

De novo

-

Yuen2017 G

ADGRV1

2-0305-003

chr5:
90099823-90099823

G

A

intronic

De novo

-

Yuen2017 G

ADGRV1

DEASD_1063_001

chr5:
90049642-90049646

TAAAG

T

exonic

De novo

frameshift deletion

NM_032119

c.11374_11377del

p.K3792fs

-

Satterstrom2020 E

ADGRV1

A4

chr5:
90516674-90516674

A

C

intergenic

De novo

-

Wu2018 G

ADGRV1

1-0009-004

chr5:
90022957-90022957

T

C

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
	More