Variant Results

or

Results for "FAM13A"

Variant Events: 31

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

FAM13A

2-1174-006

chr4:
89962917-89962917

C

CA

intronic

De novo

-

Yuen2017 G

FAM13A

1-0661-003

chr4:
89951368-89951368

C

T

intronic

De novo

-

Yuen2017 G

FAM13A

3-0456-000B

chr4:
89890536-89890536

A

C

intronic

De novo

-

Yuen2017 G

FAM13A

5-0129-003

chr4:
89963252-89963252

C

CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAA

intronic

De novo

-

Yuen2017 G

FAM13A

AU024608

chr4:
90027013-90027013

C

T

intergenic

De novo

-

Yuen2017 G

FAM13A

1-0092-003

chr4:
89753133-89753133

G

C

intronic

De novo

-

Yuen2017 G

FAM13A

AU1940304

chr4:
89944170-89944170

T

C

intronic

De novo

-

Yuen2017 G

FAM13A

A12

chr4:
89883097-89883097

T

C

intronic

De novo

-

Wu2018 G

FAM13A

7-0192-003

chr4:
89669671-89669671

G

A

intronic

De novo

-

Yuen2017 G

FAM13A

1-0169-003

chr4:
89963252-89963252

C

CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA

intronic

De novo

-

Yuen2017 G

FAM13A

2-0215-003

chr4:
89967266-89967270

AACAG

A

intronic

De novo

-

Yuen2017 G

FAM13A

AU0146302

chr4:
89685117-89685117

A

G

intronic

De novo

-

Yuen2017 G

FAM13A

AU3586303

chr4:
89842900-89842900

G

C

intronic

De novo

-

Yuen2017 G

FAM13A

1-0826-003

chr4:
89681449-89681449

C

CTTTA

intronic

De novo

-

Yuen2017 G

FAM13A

74-0752

chr4:
89772306-89772306

A

G

exonic

Inherited

nonsynonymous SNV

NM_014883

c.T872C

p.I291T

0.568

4.945E-5

Patowary2019 E

FAM13A

iHART3078

chr4:
89660260-89660261

CG

C

exonic

Maternal

frameshift deletion

NM_001265580
NM_001265578
NM_001015045
NM_001265579
NM_014883

c.1420delC
c.1462delC
c.1504delC
c.1504delC
c.2482delC

p.R474fs
p.R488fs
p.R502fs
p.R502fs
p.R828fs

-

Ruzzo2019 G

FAM13A

AU3586303

chr4:
89842910-89842910

T

C

intronic

De novo

-

Yuen2017 G

FAM13A

AU075210

chr4:
89913225-89913225

C

T

intronic

De novo

-

Yuen2017 G

FAM13A

1-0321-004

chr4:
89976998-89976998

G

A

intronic

De novo

-

Yuen2017 G

FAM13A

AU4056302

chr4:
89664297-89664297

T

A

intronic

De novo

-

Yuen2017 G

FAM13A

AU051503

chr4:
89870401-89870401

T

C

intronic

De novo

-

Yuen2017 G

FAM13A

7-0035-003

chr4:
89967691-89967691

T

C

intronic

De novo

-

Yuen2017 G

FAM13A

7-0106-003

chr4:
89939287-89939287

A

C

intronic

De novo

-

Yuen2017 G

FAM13A

12228.p1

chr4:
89941701-89941704

CTGA

GTGG

exonic

De novo

nonframeshift substitution

NM_014883

c.334_337CCAC

N/A

-

Krumm2015 E

FAM13A

1-0150-003

chr4:
89962944-89962944

A

G

intronic

De novo

-

Yuen2017 G

FAM13A

1-0387-003

chr4:
90010987-90010987

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAM13A

2-0208-003

chr4:
89854314-89854314

A

G

intronic

De novo

-

Yuen2017 G

FAM13A

11115.p1

chr4:
89695367-89695367

C

A

intronic

De novo

-

Werling2018 G

FAM13A

3-0456-000

chr4:
89890536-89890536

A

C

intronic

De novo

-

Yuen2017 G

FAM13A

1-0541-003

chr4:
89879240-89879243

CAGG

C

intronic

De novo

-

Yuen2017 G

FAM13A

1-0555-003

chr4:
89687859-89687859

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
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