Variant Results

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Results for "RUFY2"

Variant Events: 19

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

RUFY2

AU3903302

chr10:
70105588-70105588

T

C

exonic

De novo

synonymous SNV

NM_017987

c.A1863G

p.P621P

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

RUFY2

SSC09695

chr10:
70143890-70143890

T

C

exonic

De novo

nonsynonymous SNV

NM_001042417
NM_001278225
NM_017987

c.A638G
c.A566G
c.A845G

p.N213S
p.N189S
p.N282S

13.59

-

Fu2022 E
Lim2017 E
Trost2022 G

RUFY2

70477

chr10:
70161326-70161326

C

A

intronic

De novo

-

-

Trost2022 G

RUFY2

2-1402-003

chr10:
70167202-70167202

G

T

upstream

De novo

-

-

Trost2022 G

RUFY2

13979.p1

chr10:
70143890-70143890

T

C

exonic

De novo

nonsynonymous SNV

NM_001042417
NM_001278225
NM_017987

c.A638G
c.A566G
c.A845G

p.N213S
p.N189S
p.N282S

13.59

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

RUFY2

14099.p1

chr10:
70161326-70161326

C

A

intronic

De novo

-

-

Satterstrom2020 E

RUFY2

5-0099-003

chr10:
70144065-70144065

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RUFY2

12795.p1

chr10:
70160205-70160205

G

A

intronic

De novo

-

-

Turner2016 G

RUFY2

mAGRE4571

chr10:
70143893-70143893

T

G

exonic

De novo

nonsynonymous SNV

NM_001042417
NM_001278225
NM_017987

c.A635C
c.A563C
c.A842C

p.N212T
p.N188T
p.N281T

21.5

-

Cirnigliaro2023 G

RUFY2

3-0610-000

chr10:
70120346-70120346

C

A

intronic

De novo

-

-

Trost2022 G

RUFY2

SP0081042

chr10:
70152919-70152919

A

G

exonic

De novo

nonsynonymous SNV

NM_001042417
NM_001278225
NM_017987

c.T524C
c.T452C
c.T731C

p.V175A
p.V151A
p.V244A

19.82

-

Trost2022 G

RUFY2

AU2787302

chr10:
70160221-70160226

CAGGAG

CAG

intronic

De novo

-

-

Yuen2017 G

RUFY2

3-0719-001

chr10:
70114297-70114297

C

T

intronic

De novo

-

-

Trost2022 G

RUFY2

14114.p1

chr10:
70105859-70105859

T

C

intronic

De novo

-

-

Krumm2015 E
Satterstrom2020 E

RUFY2

4-0034-003

chr10:
70117878-70117878

T

C

intronic

De novo

-

-

Trost2022 G

RUFY2

AU4239301

chr10:
70119264-70119264

T

A

intronic

De novo

-

-

Yuen2017 G

RUFY2

SSC10925

chr10:
70105859-70105859

T

C

intronic

De novo

-

-

Trost2022 G

RUFY2

AU4239301

chr10:
70119272-70119272

C

T

intronic

De novo

-

-

Yuen2017 G

RUFY2

SP0026235

chr10:
70153667-70153667

A

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

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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