Variant Results

or

Results for "FBXL14"

Variant Events: 14

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

FBXL14

14037.p1

chr12:
1702873-1702873

G

A

exonic

De novo

synonymous SNV

NM_152441

c.C360T

p.R120R

-

1.654E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

FBXL14

Cukier2014:17122

chr12:
1702929-1702929

T

G

exonic

Unknown

nonsynonymous SNV

NM_152441

c.A304C

p.N102H

18.11

0.0028

Cukier2014 E

FBXL14

2-1174-005B

chr12:
1714029-1714029

A

AGGGGTGT

intergenic

De novo

-

Yuen2017 G

FBXL14

DEASD_1080_001

chr12:
1703176-1703176

G

A

exonic

De novo

synonymous SNV

NM_152441

c.C57T

p.Y19Y

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FBXL14

SSC10053

chr12:
1702873-1702873

G

A

exonic

De novo

synonymous SNV

NM_152441

c.C360T

p.R120R

-

1.654E-5

Fu2022 E
Trost2022 G

FBXL14

AU006804

chr12:
1683537-1683542

GGCAGC

GGCAGCAGC

intronic

De novo

-

Yuen2017 G

FBXL14

10-1104-003

chr12:
1687766-1687766

C

T

intronic

De novo

-

Trost2022 G

FBXL14

3-0326-000

chr12:
1691653-1691657

CTGTT

C

intronic

De novo

-

Trost2022 G

FBXL14

3-0497-000

chr12:
1687601-1687601

A

G

intronic

De novo

-

Trost2022 G

FBXL14

3-0497-000

chr12:
1687604-1687605

TG

CA

intronic

De novo

-

Trost2022 G

FBXL14

MT_195.3

chr12:
1683544-1683544

G

C

intronic

De novo

-

Trost2022 G

FBXL14

4-0073-003

chr12:
1686302-1686304

GCC

ACA

intronic

De novo

-

Trost2022 G

FBXL14

AU050704

chr12:
1683544-1683544

G

C

intronic

De novo

-

Trost2022 G

FBXL14

MSSNG00226-003

chr12:
1683544-1683544

G

C

intronic

De novo

-

Trost2022 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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