Variant Results

or

Results for "EFCAB2"

Variant Events: 29

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

EFCAB2

7-0058-003

chr1:
245136533-245136533

A

ATAATAATTTTGGCAATATAC

intronic

De novo

-

Yuen2017 G

EFCAB2

SP0092637

chr1:
245245455-245245455

T

TAGAA

exonic

De novo

frameshift insertion

NM_001143943
NM_001290327
NM_032328

c.254_255insAGAA
c.284_285insAGAA
c.254_255insAGAA

p.L85fs
p.L95fs
p.L85fs

-

Fu2022 E
Zhou2022 GE

EFCAB2

1-0530-003

chr1:
245212696-245212696

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EFCAB2

5-0131-003

chr1:
245136533-245136533

A

ATAATAATTTTGGCAATATAC

intronic

De novo

-

Yuen2017 G

EFCAB2

1-1212-003

chr1:
245179842-245179842

A

G

intronic

De novo

-

Trost2022 G

EFCAB2

7-0429-003

chr1:
245166928-245166928

G

A

intronic

De novo

-

Trost2022 G

EFCAB2

7-0171-003

chr1:
245270702-245270702

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EFCAB2

J4K7A_01

chr1:
245210960-245210960

G

A

intronic

De novo

-

Trost2022 G

EFCAB2

7-0024-003

chr1:
245281059-245281059

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EFCAB2

MSSNG00329-004

chr1:
245195801-245195801

T

C

intronic

De novo

-

Trost2022 G

EFCAB2

7-0456-003

chr1:
245150749-245150749

C

T

intronic

De novo

-

Trost2022 G

EFCAB2

MT_48.3

chr1:
245148191-245148191

C

T

intronic

De novo

-

Trost2022 G

EFCAB2

10-0010-003

chr1:
245281091-245281092

CA

TG

intronic

De novo

-

Trost2022 G

EFCAB2

MSSNG00020-003

chr1:
245264746-245264749

CCTT

C

intronic

De novo

-

Trost2022 G

EFCAB2

12795.p1

chr1:
245280588-245280588

T

C

intronic

De novo

-

Turner2016 G

EFCAB2

10-0010-003

chr1:
245281098-245281100

TCA

CCCG

intronic

De novo

-

Trost2022 G

EFCAB2

2-1526-003

chr1:
245136533-245136533

A

ATAATAATTTTGGCAATATAC

intronic

De novo

-

Yuen2017 G

EFCAB2

4-0054-003

chr1:
245281091-245281092

CA

TG

intronic

De novo

-

Trost2022 G

EFCAB2

E3F6Y_01

chr1:
245240346-245240346

G

C

intronic

De novo

-

Trost2022 G

EFCAB2

14015.p1

chr1:
245180399-245180399

A

G

intronic

De novo

-

Turner2016 G
Werling2018 G

EFCAB2

REACH000086

chr1:
245213169-245213169

C

T

intronic

De novo

-

Trost2022 G

EFCAB2

2-1466-003

chr1:
245153523-245153523

C

T

intronic

De novo

-

Yuen2016 G

EFCAB2

REACH000735

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

EFCAB2

3-0842-000

chr1:
245246631-245246631

T

C

intronic

De novo

-

Trost2022 G

EFCAB2

2-0310-003

chr1:
245136533-245136533

A

ATAATAATTTTGGCAATATAC

intronic

De novo

-

Yuen2017 G

EFCAB2

2-1359-003

chr1:
245225945-245225945

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EFCAB2

11382.p1

chr1:
245250572-245250572

G

T

exonic

Mosaic

nonsynonymous SNV

NM_001290327
NM_032328

c.G429T
c.G399T

p.M143I
p.M133I

15.84

-

Krupp2017 E

EFCAB2

AU2139301

chr1:
245201704-245201704

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EFCAB2

1-0336-003

chr1:
245136533-245136533

A

ATAATAATTTTGGCAATATAC

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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