Variant Results

or

Results for "FAM155A"

Variant Events: 50

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

FAM155A

2-1562-004

chr13:
108428965-108428965

G

T

intronic

De novo

-

Yuen2017 G

FAM155A

2-1231-003

chr13:
108350495-108350495

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FAM155A

5-0128-003

chr13:
107910772-107910772

G

A

intronic

De novo

-

Yuen2017 G

FAM155A

2-0063-005

chr13:
108773921-108773921

T

TCTGATAACC

intergenic

De novo

-

Yuen2017 G

FAM155A

AU4211304

chr13:
108242817-108242817

T

A

intronic

De novo

-

Yuen2017 G

FAM155A

1-0534-003

chr13:
108719818-108719832

TAAAAATAAATCACA

T

intergenic

De novo

-

Yuen2017 G

FAM155A

1-1004-003

chr13:
108169281-108169281

G

C

intronic

De novo

-

Yuen2017 G

FAM155A

2-1480-003

chr13:
108161345-108161345

G

A

intronic

De novo

-

Yuen2017 G

FAM155A

AU076704

chr13:
108327823-108327823

A

G

intronic

De novo

-

Yuen2017 G

FAM155A

1-0568-003

chr13:
108821265-108821265

C

T

intergenic

De novo

-

Yuen2017 G

FAM155A

7-0183-003

chr13:
108589035-108589035

T

A

intergenic

De novo

-

Yuen2017 G

FAM155A

AU2333302

chr13:
108499111-108499111

G

A

intronic

De novo

-

Yuen2017 G

FAM155A

2-1131-003

chr13:
108730307-108730307

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAM155A

AU3649305

chr13:
108593775-108593775

C

T

intergenic

De novo

-

Yuen2017 G

FAM155A

14642.p1

chr13:
107880292-107880292

T

A

intronic

De novo

-

Turner2016 G

FAM155A

AU4306302

chr13:
108427945-108427945

T

G

intronic

De novo

-

Yuen2017 G

FAM155A

2-1487-003

chr13:
108253644-108253644

C

T

intronic

De novo

-

Yuen2017 G

FAM155A

1-0683-004

chr13:
108021128-108021128

A

AG

intronic

De novo

-

Yuen2017 G

FAM155A

1-0304-003

chr13:
108836264-108836264

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAM155A

SP0033274

chr13:
108518420-108518420

G

A

exonic

De novo

synonymous SNV

NM_001080396

c.C525T

p.G175G

-

Fu2022 E

FAM155A

5-0033-004

chr13:
108846875-108846878

CAGG

C

intergenic

De novo

-

Yuen2017 G

FAM155A

13874.p1

chr13:
108376905-108376905

T

C

intronic

De novo

-

Turner2016 G

FAM155A

14370.p1

chr13:
108405058-108405058

A

G

intronic

De novo

-

Turner2016 G

FAM155A

AU4054302

chr13:
108846958-108846958

G

C

intergenic

De novo

-

Yuen2017 G

FAM155A

2-1314-003

chr13:
108348483-108348483

A

G

intronic

De novo

-

Yuen2016 G

FAM155A

AU027506

chr13:
108590796-108590796

G

A

intergenic

De novo

-

Yuen2017 G

FAM155A

AU4129303

chr13:
108012727-108012727

A

G

intronic

De novo

-

Yuen2017 G

FAM155A

7-0100-004

chr13:
108222654-108222654

G

C

intronic

De novo

-

Yuen2017 G

FAM155A

1-0508-003

chr13:
107909087-107909087

G

T

intronic

De novo

-

Yuen2017 G

FAM155A

AU4310301

chr13:
108783395-108783395

C

T

intergenic

De novo

-

Yuen2017 G

FAM155A

AU059903

chr13:
107889663-107889663

A

G

intronic

De novo

-

Yuen2017 G

FAM155A

7-0191-003

chr13:
108821955-108821955

T

C

intergenic

De novo

-

Yuen2017 G

FAM155A

74-0265

chr13:
108303700-108303700

C

T

intronic

De novo

-

Michaelson2012 G

FAM155A

AU003405

chr13:
108000850-108000850

T

G

intronic

De novo

-

Yuen2017 G

FAM155A

AU1698301

chr13:
108781927-108781927

C

A

intergenic

De novo

-

Yuen2017 G

FAM155A

1-0433-004

chr13:
108409308-108409308

T

A

intronic

De novo

-

Yuen2017 G

FAM155A

AU030104

chr13:
108380932-108380932

C

A

intronic

De novo

-

Yuen2017 G

FAM155A

1-0354-006

chr13:
108766047-108766047

C

G

intergenic

De novo

-

Yuen2017 G

FAM155A

2-1365-003

chr13:
107864734-107864734

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FAM155A

AU2975301

chr13:
107869813-107869813

C

G

intronic

De novo

-

Yuen2017 G

FAM155A

AU4093304

chr13:
108219268-108219268

T

C

intronic

De novo

-

Yuen2017 G

FAM155A

1-0384-003

chr13:
108077970-108077970

C

T

intronic

De novo

-

Yuen2017 G

FAM155A

1-0534-004

chr13:
108170288-108170288

C

T

intronic

De novo

-

Yuen2017 G

FAM155A

7-0219-003

chr13:
108627162-108627162

T

A

intergenic

De novo

-

Yuen2017 G

FAM155A

2-1409-003

chr13:
108619210-108619210

T

G

intergenic

De novo

-

Yuen2017 G

FAM155A

AU0146302

chr13:
107853936-107853936

A

G

intronic

De novo

-

Yuen2017 G

FAM155A

2-1399-003

chr13:
108308013-108308014

AA

AAGGATTATTTTA

intronic

De novo

-

Yuen2017 G

FAM155A

2-1399-003

chr13:
108308010-108308011

CT

CTTTAGGATTATT

intronic

De novo

-

Yuen2017 G

FAM155A

2-1735-003

chr13:
108289758-108289758

T

C

intronic

De novo

-

Yuen2017 G

FAM155A

AU030103

chr13:
108380932-108380932

C

A

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