Variant Results

or

or

Results for "EFCAB6"

Variant Events: 21

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

EFCAB6

2-0256-004

chr22:
43987208-43987208

G

A

intronic

De novo

-

-

Yuen2017 G

EFCAB6

AU4473301

chr22:
44157947-44157947

C

T

intronic

De novo

-

-

Yuen2017 G

EFCAB6

EGAN00001100954

chr22:
44067862-44067862

T

A

exonic

De novo

nonsynonymous SNV

NM_198856
NM_022785

c.A1175T
c.A1631T

p.H392L
p.H544L

15.88

-

Satterstrom2020 E

EFCAB6

08C76846

chr22:
44161149-44161149

A

G

intronic

De novo

-

-

Satterstrom2020 E

EFCAB6

AU3846302

chr22:
44182663-44182663

T

C

intronic

De novo

-

-

Yuen2017 G

EFCAB6

12849.p1

chr22:
44083347-44083347

A

ATTTT

intronic

De novo

-

-

Satterstrom2020 E

EFCAB6

2-0102-003

chr22:
43964707-43964707

G

A

intronic

De novo

-

-

Yuen2017 G

EFCAB6

iHART1256

chr22:
44031082-44031082

A

AG

exonic

Maternal

frameshift insertion

NM_198856
NM_022785

c.1541dupC
c.1997dupC

p.T514fs
p.T666fs

-

Ruzzo2019 G

EFCAB6

AU4089301

chr22:
44145011-44145011

G

A

intronic

De novo

-

-

Yuen2017 G

EFCAB6

12795.p1

chr22:
44145659-44145659

C

G

intronic

De novo

-

-

Turner2016 G

EFCAB6

2-1290-004

chr22:
44126117-44126117

A

AG

intronic

De novo

-

-

Yuen2017 G

EFCAB6

2-1335-004

chr22:
44053337-44053347

GTTTTGGAAAT

G

intronic

De novo

-

-

Yuen2017 G

EFCAB6

AU2792301

chr22:
43993553-43993553

G

A

intronic

De novo

-

-

Yuen2017 G

EFCAB6

AU4462302

chr22:
44171310-44171310

C

T

intronic

De novo

-

-

Yuen2017 G

EFCAB6

Cukier2014:37024

chr22:
44004465-44004465

C

T

exonic

Unknown

nonsynonymous SNV

NM_198856
NM_022785

c.G2122A
c.G2578A

p.D708N
p.D860N

17.3

Cukier2014 E

EFCAB6

1-0271-003

chr22:
44126117-44126117

A

AG

intronic

De novo

-

-

Yuen2017 G

EFCAB6

AU3768302

chr22:
44096381-44096381

C

G

intronic

De novo

-

-

Yuen2017 G

EFCAB6

2-1317-003

chr22:
43988675-43988675

G

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

EFCAB6

AU3905302

chr22:
44008305-44008305

C

T

intronic

De novo

-

-

Yuen2017 G

EFCAB6

5-0088-003

chr22:
44022630-44022630

G

A

intronic

De novo

-

-

Yuen2017 G

EFCAB6

13125.p1

chr22:
43933296-43933296

C

T

exonic

De novo

nonsynonymous SNV

NM_198856
NM_022785

c.G3553A
c.G4009A

p.V1185M
p.V1337M

11.63

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

Source Variant Information

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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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