Variant Results

or

Results for "FAM189A1"

Variant Events: 55

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

FAM189A1

2-1235-004

chr15:
29802484-29802484

A

T

intronic

De novo

-

Yuen2017 G

FAM189A1

2-1094-004

chr15:
29835357-29835357

G

GTTAACTTCTTGCTTTTAATGAGACTGTCT

intronic

De novo

-

Yuen2017 G

FAM189A1

1-0253-005

chr15:
29949123-29949123

T

C

intergenic

De novo

-

Yuen2017 G

FAM189A1

AU1894304

chr15:
29553985-29553985

A

G

intronic

De novo

-

Yuen2017 G

FAM189A1

AU3051303

chr15:
29571409-29571409

G

A

intronic

De novo

-

Yuen2017 G

FAM189A1

1-0346-004

chr15:
29850908-29850908

C

CTCCTCT

intronic

De novo

-

Yuen2017 G

FAM189A1

AU072005

chr15:
29720122-29720122

G

A

intronic

De novo

-

Yuen2017 G

FAM189A1

AU015903

chr15:
29590857-29590857

T

C

intronic

De novo

-

Yuen2017 G

FAM189A1

mAGRE1383

chr15:
29429241-29429241

G

A

exonic

Maternal

stopgain

NM_015307

c.C787T

p.Q263X

17.61

-

Cirnigliaro2023 G

FAM189A1

AU3506303

chr15:
29828680-29828681

CG

CGG

intronic

De novo

-

Yuen2017 G

FAM189A1

2-1283-003

chr15:
29918207-29918207

C

A

intergenic

De novo

-

Yuen2017 G

FAM189A1

3-0602-000

chr15:
29558605-29558605

A

G

intronic

De novo

-

Trost2022 G

FAM189A1

iHART1383

chr15:
29429241-29429241

G

A

exonic

Maternal

stopgain

NM_015307

c.C787T

p.Q263X

17.61

-

Ruzzo2019 G

FAM189A1

PN400273

chr15:
29544615-29544615

C

T

exonic

Unknown

nonsynonymous SNV

NM_015307

c.G344A

p.C115Y

24.8

3.0E-4

Leblond2019 E

FAM189A1

2-1251-003

chr15:
29584472-29584472

T

C

intronic

De novo

-

Yuen2017 G

FAM189A1

AU003406

chr15:
29454598-29454598

G

A

intronic

De novo

-

Yuen2017 G

FAM189A1

1-0153-004

chr15:
29850908-29850908

C

CTCCTCT

intronic

De novo

-

Yuen2017 G

FAM189A1

14-1775

chr15:
29559878-29559878

C

G

intronic

De novo

-

Trost2022 G

FAM189A1

AU3051302

chr15:
29509861-29509868

CTTCTTGT

CT

intronic

De novo

-

Yuen2017 G

FAM189A1

PN400325

chr15:
29416952-29416952

G

C

exonic

Unknown

stopgain

NM_015307

c.C1241G

p.S414X

17.08

5.288E-5

Leblond2019 E

FAM189A1

PN400285

chr15:
29416952-29416952

G

C

exonic

Unknown

stopgain

NM_015307

c.C1241G

p.S414X

17.08

5.288E-5

Leblond2019 E

FAM189A1

1-0336-004

chr15:
29990480-29990480

G

C

intergenic

De novo

-

Yuen2017 G

FAM189A1

PN400488

chr15:
29416952-29416952

G

C

exonic

Unknown

stopgain

NM_015307

c.C1241G

p.S414X

17.08

5.288E-5

Leblond2019 E

FAM189A1

13946.p1

chr15:
29631323-29631323

T

G

intronic

De novo

-

Turner2016 G

FAM189A1

AU3343301

chr15:
29939567-29939567

G

A

intergenic

De novo

-

Yuen2017 G

FAM189A1

2-1314-003

chr15:
29526288-29526288

G

A

intronic

De novo

-

Yuen2016 G

FAM189A1

2-1507-003

chr15:
29831350-29831350

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

14482.p1

chr15:
29694528-29694528

A

G

intronic

De novo

-

Turner2016 G

FAM189A1

1-0914-003

chr15:
29429735-29429735

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

12568.p1

chr15:
29967197-29967197

A

G

intergenic

De novo

-

Turner2016 G

FAM189A1

2-0210-005

chr15:
29722592-29722592

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

2-1184-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

FAM189A1

2-1619-003

chr15:
29850914-29850914

T

TCCACC

intronic

De novo

-

Yuen2017 G

FAM189A1

AU027506

chr15:
29607562-29607562

G

A

intronic

De novo

-

Yuen2017 G

FAM189A1

SP0069482

chr15:
29862638-29862638

G

C

intronic

De novo

-

Fu2022 E

FAM189A1

1-0010-005

chr15:
29426906-29426907

CT

C

intronic

De novo

-

Yuen2017 G

FAM189A1

2-1266-003

chr15:
29718700-29718700

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FAM189A1

14583.p1

chr15:
29862916-29862916

G

A

exonic

synonymous SNV

NM_015307

c.C12T

p.A4A

-

Zhou2022 GE

FAM189A1

1-0595-005

chr15:
29705524-29705528

AGATC

A

intronic

De novo

-

Yuen2017 G

FAM189A1

2-1093-003

chr15:
29982685-29982685

C

T

intergenic

De novo

-

Yuen2017 G

FAM189A1

AU4315302

chr15:
29832006-29832006

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

AU3724301

chr15:
29648460-29648460

A

G

intronic

De novo

-

Yuen2017 G

FAM189A1

A27

chr15:
29732405-29732405

A

C

intronic

De novo

-

Wu2018 G

FAM189A1

AU3451301

chr15:
29685514-29685514

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

AU4033304

chr15:
29929374-29929374

C

T

intergenic

De novo

-

Yuen2017 G

FAM189A1

2-0143-004

chr15:
29853195-29853195

T

TA

intronic

De novo

-

Yuen2017 G

FAM189A1

AU069603

chr15:
29422404-29422404

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

AU4378301

chr15:
29901253-29901253

C

T

intergenic

De novo

-

Yuen2017 G

FAM189A1

AU3125301

chr15:
29926761-29926761

G

A

intergenic

De novo

-

Yuen2017 G

FAM189A1

2-1283-004

chr15:
29918207-29918207

C

A

intergenic

De novo

-

Yuen2017 G

FAM189A1

AU2123301

chr15:
29751262-29751262

T

C

intronic

De novo

-

Yuen2017 G

FAM189A1

1-0555-003

chr15:
29917734-29917734

A

C

intergenic

De novo

-

Yuen2017 G

FAM189A1

1-0973-003

chr15:
29719850-29719850

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

AU1742302

chr15:
29629950-29629950

C

T

intronic

De novo

-

Yuen2017 G

FAM189A1

1-0555-003

chr15:
29874891-29874899

TGTTGCTCA

T

intergenic

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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