Variant Results

or

Results for "USP34"

Variant Events: 37

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

USP34

7-0167-003

chr2:
61702658-61702658

T

C

intergenic

De novo

-

Yuen2017 G

USP34

08C72349

chr2:
61456779-61456779

A

G

intronic

De novo

-

Satterstrom2020 E

USP34

1-0261-004

chr2:
61478254-61478258

TCAAG

T

intronic

De novo

-

Yuen2017 G

USP34

G01-GEA-133-HI

chr2:
61697840-61697840

G

GCC

UTR5

De novo

-

Satterstrom2020 E

USP34

2-1173-003

chr2:
61625128-61625128

C

T

intronic

De novo

-

Yuen2017 G

USP34

JASD_Fam0025

chr2:
61415298-61415298

A

G

exonic

De novo

nonsynonymous SNV

NM_014709

c.T10580C

p.I3527T

13.48

-

Takata2018 E

USP34

03HI2710A

chr2:
61455856-61455856

T

A

splicing

De novo

splicing

22.8

1.0E-4

Satterstrom2020 E

USP34

2-1509-003

chr2:
61554481-61554481

G

C

intronic

De novo

-

Yuen2017 G

USP34

12011.p1

chr2:
61697733-61697733

C

T

intronic

De novo

-

Turner2016 G

USP34

2-1318-004

chr2:
61703720-61703720

C

A

intergenic

De novo

-

Yuen2017 G

USP34

08C74889

chr2:
61575846-61575846

G

C

intronic

De novo

-

Satterstrom2020 E

USP34

13874.p1

chr2:
61472531-61472531

G

A

intronic

De novo

-

Turner2016 G

USP34

2-0323-003

chr2:
61685297-61685297

T

C

intronic

De novo

-

Yuen2017 G

USP34

EGAN00001101030

chr2:
61416178-61416178

C

CAGGA

exonic

De novo

frameshift insertion

NM_014709

c.9899_9900insTCCT

p.L3300fs

-

Fu2022 E
Satterstrom2020 E

USP34

AU006804

chr2:
61606725-61606725

C

T

intronic

De novo

-

Yuen2017 G

USP34

74-0265

chr2:
61451538-61451538

T

G

intronic

De novo

-

Michaelson2012 G

USP34

2-0289-003

chr2:
61422451-61422451

A

C

intronic

De novo

-

Yuen2017 G

USP34

1-0261-003

chr2:
61478254-61478258

TCAAG

T

intronic

De novo

-

Yuen2017 G

USP34

1-0290-003

chr2:
61703532-61703532

C

CTG

intergenic

De novo

-

Yuen2017 G

USP34

2-1736-003

chr2:
61593937-61593937

C

G

intronic

De novo

-

Yuen2017 G

USP34

2-1382-003

chr2:
61699195-61699195

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

USP34

5-0131-003

chr2:
61611251-61611253

TAC

T

intronic

De novo

-

Yuen2017 G

USP34

DEASD_4030_001

chr2:
61492753-61492753

T

C

intronic

De novo

-

Fu2022 E

USP34

14288_p1

chr2:
61647938-61647938

T

C

exonic

De novo

nonsynonymous SNV

NM_014709

c.A74G

p.Q25R

23.1

-

Fu2022 E

USP34

SP0126453

chr2:
61417707-61417707

T

A

exonic

De novo

nonsynonymous SNV

NM_014709

c.A9675T

p.R3225S

22.8

-

Fu2022 E

USP34

SP0132874

chr2:
61415089-61415089

G

A

UTR3

De novo

-

Fu2022 E

USP34

AU3865301

chr2:
61588017-61588017

T

G

intronic

De novo

-

Yuen2017 G

USP34

SP0065622

chr2:
61486877-61486877

A

G

exonic

De novo

nonsynonymous SNV

NM_014709

c.T5813C

p.L1938P

21.9

-

Fu2022 E

USP34

SMHC01644s000

chr2:
61454300-61454300

T

A

exonic

De novo

nonsynonymous SNV

NM_014709

c.A7497T

p.E2499D

20.2

-

Yuan2023 E

USP34

1-0570-003

chr2:
61537998-61537998

T

C

intronic

De novo

-

Yuen2017 G

USP34

1-0555-003

chr2:
61420920-61420920

C

CT

intronic

De novo

-

Yuen2017 G

USP34

2-1364-003

chr2:
61504889-61504889

T

C

intronic

De novo

-

Yuen2017 G

USP34

AU3649304

chr2:
61693216-61693216

G

C

intronic

De novo

-

Yuen2017 G

USP34

08C78540

chr2:
61647859-61647859

C

T

intronic

De novo

-

1.0E-4

Satterstrom2020 E

USP34

ASC_142560

chr2:
61468651-61468656

TTAACA

T

intronic

De novo

-

Satterstrom2020 E

USP34

14288.p1

chr2:
61647938-61647938

T

C

exonic

De novo

nonsynonymous SNV

NM_014709

c.A74G

p.Q25R

23.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

USP34

2-1369-003

chr2:
61424564-61424564

A

C

intronic

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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