Variant Results

or

or

Results for "ABLIM1"

Variant Events: 25

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

ABLIM1

2-1255-003

chr10:
116256054-116256054

T

C

intronic

De novo

-

-

Yuen2017 G

ABLIM1

1-0563-004

chr10:
116441277-116441277

A

G

intronic

De novo

-

-

Yuen2017 G

ABLIM1

1-1004-003

chr10:
116318904-116318904

C

T

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-1318-004

chr10:
116519138-116519138

A

G

intergenic

De novo

-

-

Yuen2017 G

ABLIM1

AU076808

chr10:
116219843-116219843

A

C

intronic

De novo

-

-

Yuen2017 G

ABLIM1

AU1909304

chr10:
116410822-116410826

ACCCC

ACCCCC

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-0070-004

chr10:
116486402-116486402

G

A

intergenic

De novo

-

-

Yuen2017 G

ABLIM1

2-0289-004

chr10:
116465699-116465699

T

C

intergenic

De novo

-

-

Yuen2017 G

ABLIM1

5-0114-003

chr10:
116407725-116407725

T

A

intronic

De novo

-

-

Yuen2017 G

ABLIM1

AU1933302

chr10:
116519689-116519689

T

C

intergenic

De novo

-

-

Yuen2017 G

ABLIM1

1-0290-003

chr10:
116325402-116325402

A

AT

intronic

De novo

-

-

Yuen2017 G

ABLIM1

1-0547-003

chr10:
116236672-116236672

G

A

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-0299-003

chr10:
116467510-116467510

A

C

intergenic

De novo

-

-

Yuen2017 G

ABLIM1

3-0215-000

chr10:
116233698-116233698

C

T

exonic

De novo

synonymous SNV

NM_006720
NM_001003407
NM_002313
NM_001003408

c.G195A
c.G879A
c.G1059A
c.G963A

p.S65S
p.S293S
p.S353S
p.S321S

5.776

-

Tammimies2015 E

ABLIM1

AU031203

chr10:
116511314-116511314

T

C

intergenic

De novo

-

-

Yuen2017 G

ABLIM1

5-0099-003

chr10:
116403029-116403029

C

T

intronic

De novo

-

-

Yuen2017 G

ABLIM1

SP0073414

chr10:
116373403-116373403

A

C

intronic

De novo

-

-

Fu2022 E

ABLIM1

2-1644-004

chr10:
116200778-116200778

C

T

exonic

De novo

nonsynonymous SNV

NM_006720
NM_001003407
NM_002313
NM_001003408

c.G1088A
c.G1877A
c.G2057A
c.G1961A

p.R363Q
p.R626Q
p.R686Q
p.R654Q

16.87

-

Yuen2017 G

ABLIM1

2-0323-004

chr10:
116272692-116272692

A

C

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-1644-003

chr10:
116200778-116200778

C

T

exonic

De novo

nonsynonymous SNV

NM_006720
NM_001003407
NM_002313
NM_001003408

c.G1088A
c.G1877A
c.G2057A
c.G1961A

p.R363Q
p.R626Q
p.R686Q
p.R654Q

16.87

-

Yuen2017 G

ABLIM1

2-1562-004

chr10:
116251788-116251788

G

A

intronic

De novo

-

-

Yuen2017 G

ABLIM1

AU015903

chr10:
116291564-116291564

C

T

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-1356-003

chr10:
116275090-116275090

G

A

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-1562-003

chr10:
116251788-116251788

G

A

intronic

De novo

-

-

Yuen2017 G

ABLIM1

2-0296-004

chr10:
116386186-116386186

C

T

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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