Variant Results

or

or

Results for "RUFY1"

Variant Events: 22

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

RUFY1

2-1132-003

chr5:
179021786-179021786

C

A

intronic

De novo

-

-

Yuen2017 G

RUFY1

2-1415-004

chr5:
179021490-179021490

T

C

intronic

De novo

-

-

Yuen2017 G

RUFY1

2-1526-003

chr5:
179021490-179021490

T

C

intronic

De novo

-

-

Yuen2017 G

RUFY1

Kim2020:B29

chr5:
179036381-179036381

A

G

exonic

De novo

nonsynonymous SNV

NM_001040451
NM_001040452
NM_025158

c.A1664G
c.A1664G
c.A1988G

p.H555R
p.H555R
p.H663R

21.7

-

Kim2020 E

RUFY1

AU3888302

chr5:
179015951-179015951

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RUFY1

MSSNG00125-003

chr5:
179017248-179017248

G

A

intronic

De novo

-

-

Trost2022 G

RUFY1

1-0141-003

chr5:
179040120-179040120

G

A

intergenic

De novo

-

-

Yuen2017 G

RUFY1

2-1702-004

chr5:
178999693-178999697

CAATG

C

intronic

De novo

-

-

Yuen2017 G

RUFY1

MSSNG00341-004

chr5:
178978178-178978178

A

G

intronic

De novo

-

-

Trost2022 G

RUFY1

SP0191939

chr5:
178989566-178989566

G

C

exonic

De novo

nonsynonymous SNV

NM_001040451
NM_001040452
NM_025158

c.G179C
c.G179C
c.G503C

p.G60A
p.G60A
p.G168A

20.3

-

Trost2022 G

RUFY1

NDAR_INVLH429WK1_wes1

chr5:
179023604-179023604

G

A

exonic

De novo

nonsynonymous SNV

NM_001040451
NM_001040452
NM_025158

c.G1229A
c.G1229A
c.G1553A

p.R410Q
p.R410Q
p.R518Q

4.182

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RUFY1

SP0014668

chr5:
178977549-178977549

T

G

upstream

De novo

-

-

Trost2022 G

RUFY1

2-1134-003

chr5:
179034611-179034611

C

T

exonic

De novo

nonsynonymous SNV

NM_001040451
NM_001040452
NM_025158

c.C1610T
c.C1610T
c.C1934T

p.A537V
p.A537V
p.A645V

22.4

Yuen2017 G
Zhou2022 GE

RUFY1

365_19au

chr5:
178994378-178994378

A

T

intronic

De novo

-

-

Fu2022 E

RUFY1

SP0019782

chr5:
178996471-178996471

G

C

intronic

De novo

-

-

Fu2022 E

RUFY1

2-1821-003

chr5:
179034470-179034470

G

A

intronic

De novo

-

-

Trost2022 G

RUFY1

SP0142081

chr5:
178987178-178987178

T

G

exonic

De novo

nonsynonymous SNV

NM_001040451
NM_001040452
NM_025158

c.T139G
c.T139G
c.T463G

p.C47G
p.C47G
p.C155G

32.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RUFY1

MSSNG00415-003

chr5:
179037200-179037200

A

G

downstream

De novo

-

-

Trost2022 G

RUFY1

1-0048-003

chr5:
178987037-178987037

C

G

exonic

De novo

nonsynonymous SNV

NM_025158

c.C322G

p.Q108E

13.45

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RUFY1

2-0307-003

chr5:
179021490-179021490

T

C

intronic

De novo

-

-

Yuen2017 G

RUFY1

1-0048-003

chr5:
178983884-178983884

G

A

intronic

De novo

-

-

Yuen2017 G

RUFY1

3-0783-000

chr5:
179030780-179030780

C

T

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
	More