Variant Results

or

or

Results for "FYCO1"

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

FYCO1

2-1820-003

chr3:
46031664-46031664

A

G

intronic

De novo

-

-

Trost2022 G

FYCO1

1-0458-005

chr3:
46011251-46011251

C

T

exonic

De novo

synonymous SNV

NM_024513

c.G546A

p.T182T

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

FYCO1

AU007503

chr3:
46018911-46018911

T

A

intronic

De novo

-

-

Trost2022 G

FYCO1

2-1440-003

chr3:
46018917-46018917

T

A

intronic

De novo

-

-

Trost2022 G

FYCO1

SSC03004

chr3:
46005818-46005818

T

C

intronic

De novo

-

-

Trost2022 G

FYCO1

AU3057302

chr3:
45958469-45958469

C

T

downstream

De novo

-

-

Yuen2017 G

FYCO1

REACH000414

chr3:
46005914-46005914

G

C

exonic

De novo

nonsynonymous SNV

NM_024513

c.C3183G

p.S1061R

10.71

-

Trost2022 G
Zhou2022 GE

FYCO1

SJD_8.3

chr3:
45965193-45965193

C

T

exonic

De novo

nonsynonymous SNV

NM_024513

c.G4316A

p.R1439H

20.5

Trost2022 G
Zhou2022 GE

FYCO1

2-0704-003

chr3:
46029463-46029463

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FYCO1

Cukier2014:17351

chr3:
46003735-46003735

C

T

exonic

Unknown

nonsynonymous SNV

NM_024513

c.G3419A

p.R1140Q

36.0

Cukier2014 E

FYCO1

Cukier2014:17351

chr3:
46008983-46008983

G

A

exonic

Unknown

nonsynonymous SNV

NM_024513

c.C1843T

p.R615W

16.16

Cukier2014 E

FYCO1

1-0972-003

chr3:
46039042-46039042

G

A

intergenic

De novo

-

-

Yuen2017 G

FYCO1

13283_p1

chr3:
45999926-45999926

G

C

exonic

De novo

nonsynonymous SNV

NM_024513

c.C3773G

p.P1258R

11.45

-

Fu2022 E

FYCO1

C241003

chr3:
46005827-46005827

C

A

splicing

De novo

splicing

19.69

-

Fu2022 E

FYCO1

1-0991-003

chr3:
46032259-46032259

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

FYCO1

13283.p1

chr3:
45999926-45999926

G

C

exonic

De novo

nonsynonymous SNV

NM_024513

c.C3773G

p.P1258R

11.45

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

FYCO1

11644.p1

chr3:
46005818-46005818

T

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

FYCO1

1-0009-004

chr3:
46050768-46050768

G

A

intergenic

De novo

-

-

Yuen2017 G

FYCO1

7-0232-003

chr3:
45983423-45983423

G

A

intronic

De novo

-

-

Trost2022 G

FYCO1

7-0232-004

chr3:
45983423-45983423

G

A

intronic

De novo

-

-

Trost2022 G

FYCO1

mAGRE4846

chr3:
46026516-46026516

T

C

splicing

De novo

splicing

-

-

Cirnigliaro2023 G

FYCO1

4-0095-003

chr3:
45979085-45979085

G

A

intronic

De novo

-

-

Trost2022 G

FYCO1

REACH000644

chr3:
45979570-45979570

T

C

intronic

De novo

-

-

Trost2022 G

FYCO1

1-0350-003

chr3:
45966260-45966260

A

G

intronic

De novo

-

-

Trost2022 G

FYCO1

SP0125512

chr3:
46008842-46008843

AG

A

exonic

De novo

frameshift deletion

NM_024513

c.1983delC

p.A661fs

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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