Variant Results

or

Results for "C10orf90"

Variant Events: 24

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

C10orf90

2-1250-003

chr10:
128590711-128590711

T

TTAAA

intergenic

De novo

-

Yuen2017 G

C10orf90

AU026604

chr10:
128255120-128255120

C

T

intergenic

De novo

-

Yuen2017 G

C10orf90

AU028305

chr10:
128496680-128496680

G

T

intergenic

De novo

-

Yuen2017 G

C10orf90

200675704@1082034185

chr10:
128158606-128158722

ATGCATGCTGCAGAGAAGGAGGGAAGGTGTTCTTCTGCATGTTGCATACTGCAGGGGGGAAGGCACTCTTCTGCATGTTGTGTCCTGCAGTGGAGGAAAAGGCATTCTTCTGTAGGT

A

intronic

De novo

-

Satterstrom2020 E

C10orf90

2-1734-003

chr10:
128282271-128282271

A

G

intergenic

De novo

-

Yuen2017 G

C10orf90

2-1430-003

chr10:
128362598-128362598

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

C10orf90

2-1314-003

chr10:
128420938-128420938

A

C

intergenic

De novo

-

Yuen2016 G

C10orf90

AU4284301

chr10:
128587095-128587099

AACAC

AAC

intergenic

De novo

-

Yuen2017 G

C10orf90

13515.p1

chr10:
128333497-128333497

A

T

intergenic

De novo

-

Turner2016 G

C10orf90

36886

chr10:
128193561-128193561

A

AG

exonic

De novo

frameshift insertion

NM_001004298

c.207dupC

p.L70fs

-

Fu2022 E

C10orf90

A28

chr10:
128168115-128168115

G

A

intronic

De novo

-

Wu2018 G

C10orf90

2-1715-004

chr10:
128234116-128234116

A

G

intergenic

De novo

-

Yuen2017 G

C10orf90

2-0244-003

chr10:
128576629-128576629

T

A

intergenic

De novo

-

Yuen2017 G

C10orf90

10C107588

chr10:
128118361-128118361

A

G

exonic

De novo

synonymous SNV

NM_001004298

c.T1956C

p.S652S

9.428

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

C10orf90

2-0244-003

chr10:
128486444-128486454

CCACTGGGCTT

C

intergenic

De novo

-

Yuen2017 G

C10orf90

1-0191-004

chr10:
128471095-128471095

A

C

intergenic

De novo

-

Yuen2017 G

C10orf90

1-0197-004

chr10:
128396447-128396447

G

A

intergenic

De novo

-

Yuen2017 G

C10orf90

5-0131-003

chr10:
128296185-128296185

G

A

intergenic

De novo

-

Yuen2017 G

C10orf90

14093.p1

chr10:
128446837-128446837

C

CT

intergenic

De novo

-

Wilfert2021 G

C10orf90

5090_child

chr10:
128118361-128118361

A

G

exonic

De novo

synonymous SNV

NM_001004298

c.T1956C

p.S652S

9.428

-

Neale2012 E

C10orf90

AU3768302

chr10:
128551219-128551219

G

C

intergenic

De novo

-

Yuen2017 G

C10orf90

14563.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001004298
NM_001004298

c.207dupC
c.206dupC

p.L70fs
p.S69fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

C10orf90

SP0005862

chr10:
128213345-128213345

C

T

intergenic

De novo

-

Fu2022 E

C10orf90

2-1127-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 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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