Variant Results

or

Results for "FAM169A"

Variant Events: 20

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

FAM169A

08C78951

chr5:
74130375-74130379

AATTC

A

exonic

De novo

frameshift deletion

NM_015566

c.362_365del

p.R121fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FAM169A

AU071703

chr5:
74181406-74181406

C

T

intergenic

De novo

-

Yuen2017 G

FAM169A

2-0070-003

chr5:
74192225-74192225

G

A

intergenic

De novo

-

Yuen2017 G

FAM169A

AU076509

chr5:
74279922-74279922

C

T

intergenic

De novo

-

Yuen2017 G

FAM169A

08C75433

chr5:
74134854-74134854

T

A

exonic

De novo

nonsynonymous SNV

NM_015566

c.A254T

p.D85V

23.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FAM169A

SP0084967

chr5:
74077441-74077441

G

A

exonic

De novo

synonymous SNV

NM_015566

c.C1857T

p.S619S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FAM169A

A23

chr5:
74253670-74253670

C

A

intergenic

De novo

-

Wu2018 G

FAM169A

AU4197302

chr5:
74287164-74287164

T

C

intergenic

De novo

-

Yuen2017 G

FAM169A

3-0534-000

chr5:
74128967-74128967

C

T

intronic

De novo

-

Trost2022 G

FAM169A

3-0659-000

chr5:
74145366-74145366

A

G

intronic

De novo

-

Trost2022 G

FAM169A

2-1591-003

chr5:
74252665-74252665

C

T

intergenic

De novo

-

Yuen2017 G

FAM169A

SP0019703

chr5:
74077826-74077826

C

A

exonic

De novo

nonsynonymous SNV

NM_015566

c.G1472T

p.R491L

6.624

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

FAM169A

2-1508-003

chr5:
74185567-74185567

C

A

intergenic

De novo

-

Yuen2017 G

FAM169A

AU065807

chr5:
74257743-74257743

C

T

intergenic

De novo

-

Yuen2017 G

FAM169A

2-1338-003

chr5:
74321341-74321341

A

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

FAM169A

1-0007-003

chr5:
74089760-74089760

A

G

intronic

De novo

-

Yuen2017 G

FAM169A

Cukier2014:37117

chr5:
74101028-74101028

C

T

exonic

Unknown

nonsynonymous SNV

NM_015566

c.G752A

p.R251Q

29.7

-

Cukier2014 E

FAM169A

AU2777302

chr5:
74112200-74112200

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAM169A

MSSNG00035-003

chr5:
74083903-74083903

A

G

intronic

De novo

-

Trost2022 G

FAM169A

2-1415-004

chr5:
74284723-74284723

A

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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