Variant Results

or

or

Results for "EFCAB11"

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

EFCAB11

iHART2899

chr14:
90263615-90263615

G

T

exonic

De novo

nonsynonymous SNV

NM_001284267
NM_001284269
NM_145231

c.C320A
c.C392A
c.C464A

p.A107D
p.A131D
p.A155D

24.0

-

Ruzzo2019 G

EFCAB11

14505.p1

chr14:
90398834-90398834

A

ATT

intronic

De novo

-

Satterstrom2020 E

EFCAB11

2-0090-003

chr14:
90321387-90321387

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EFCAB11

SP0040062

chr14:
90421128-90421128

G

T

upstream

De novo

-

-

Fu2022 E

EFCAB11

1-0067-005

chr14:
90415304-90415304

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EFCAB11

1-0539-003

chr14:
90313047-90313049

CCC

GAGT

intronic

De novo

-

-

Trost2022 G

EFCAB11

MSSNG00088-003

chr14:
90320868-90320868

G

A

intronic

De novo

-

-

Trost2022 G

EFCAB11

4-0062-003

chr14:
90265877-90265878

GG

AA

intronic

De novo

-

-

Trost2022 G

EFCAB11

AU2320301

chr14:
90305519-90305519

G

A

intronic

De novo

-

-

Trost2022 G

EFCAB11

AU024606

chr14:
90364871-90364871

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EFCAB11

MT_183.4

chr14:
90264281-90264281

A

G

intronic

De novo

-

-

Trost2022 G

EFCAB11

3-0485-000A

chr14:
90414346-90414346

A

C

intronic

De novo

-

-

Trost2022 G

EFCAB11

SP0076358

chr14:
90418895-90418895

G

A

intronic

De novo

-

-

Trost2022 G

EFCAB11

36218

chr14:
90398834-90398834

A

ATT

intronic

De novo

-

Trost2022 G

EFCAB11

REACH000086

chr14:
90409213-90409213

C

T

intronic

De novo

-

-

Trost2022 G

EFCAB11

7-0454-003

chr14:
90384727-90384727

A

G

intronic

De novo

-

-

Trost2022 G

EFCAB11

MSSNG00419-003

chr14:
90393298-90393298

G

A

intronic

De novo

-

-

Trost2022 G

EFCAB11

7-0281-003

chr14:
90322969-90322969

C

T

intronic

De novo

-

-

Trost2022 G

EFCAB11

4-0034-003

chr14:
90330620-90330620

G

A

intronic

De novo

-

-

Trost2022 G

EFCAB11

AU2123301

chr14:
90419145-90419145

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EFCAB11

mAGRE4023

chr14:
90397976-90397976

C

A

splicing

Paternal

splicing

18.95

-

Cirnigliaro2023 G

EFCAB11

1-0509-003

chr14:
90375988-90375988

G

A

intronic

De novo

-

-

Yuen2017 G

EFCAB11

mAGRE2899

chr14:
90263615-90263615

G

T

exonic

De novo

nonsynonymous SNV

NM_001284267
NM_001284269
NM_145231

c.C320A
c.C392A
c.C464A

p.A107D
p.A131D
p.A155D

24.0

-

Cirnigliaro2023 G

EFCAB11

AU4079301

chr14:
90390391-90390399

TAACATCTA

T

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

EFCAB11

3-0018-000

chr14:
90304328-90304328

C

T

intronic

De novo

-

-

Trost2022 G
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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