Variant Results

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Results for "HUWE1"

Variant Events: 23

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

HUWE1

Bruno2021:XX

chrX:
53574793-53574796

TGGT

T

exonic

De novo

nonframeshift deletion

NM_031407

c.10474_10476del

p.3492_3492del

-

-

Bruno2021 E

HUWE1

AU3720302

chrX:
53650607-53650616

CAAAAAAAAA

CAAAAAAAAAA

intronic

De novo

-

-

Yuen2017 G

HUWE1

2-0028-003

chrX:
53888978-53888978

G

C

intergenic

De novo

-

-

Yuen2017 G

HUWE1

80001101001

chrX:
53629649-53629649

A

AATAT

intronic

De novo

-

-

Satterstrom2020 E

HUWE1

A27

chrX:
53577062-53577062

G

A

intronic

De novo

-

-

Wu2018 G

HUWE1

12378.p1

chrX:
53577640-53577640

T

G

exonic

De novo

nonsynonymous SNV

NM_031407

c.A9475C

p.S3159R

15.16

Ji2016 E

HUWE1

DEASD_0403_001

chrX:
53603952-53603952

T

C

exonic

De novo

nonsynonymous SNV

NM_031407

c.A5792G

p.K1931R

20.6

-

Satterstrom2020 E

HUWE1

14682.p1

chrX:
53641611-53641611

G

A

exonic

De novo

synonymous SNV

NM_031407

c.C2145T

p.P715P

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

HUWE1

AU3865301

chrX:
53907448-53907448

G

A

intergenic

De novo

-

-

Yuen2017 G

HUWE1

Lee2020:87

chrX:
53658518-53658518

C

T

splicing

splicing

19.21

-

Lee2020 T

HUWE1

Hu2022:81

chrX:
53574690-53574690

A

G

exonic

Unknown

nonsynonymous SNV

NM_031407

c.T10580C

p.V3527A

11.84

-

Hu2022 T

HUWE1

SP0034740

chrX:
53574886-53574886

T

C

exonic

De novo

nonsynonymous SNV

NM_031407

c.A10384G

p.I3462V

13.78

Feliciano2019 E

HUWE1

Chen2021:8

chrX:
53658518-53658518

C

A

splicing

De novo

splicing

18.91

-

Chen2021 GET

HUWE1

iHART2366

chrX:
53578391-53578392

CA

C

exonic

Unknown

frameshift deletion

NM_031407

c.8931delT

p.P2977fs

-

-

Ruzzo2019 G

HUWE1

1-0075-003

chrX:
53792937-53792937

G

A

intergenic

De novo

-

-

Yuen2017 G

HUWE1

214-17090-1

chrX:
53596703-53596703

G

A

exonic

Unknown

nonsynonymous SNV

NM_031407

c.C6397T

p.R2133C

21.3

-

Stessman2017 T

HUWE1

AU031403

chrX:
53600206-53600214

GTTTTTTTT

GTTTTTTTTT

intronic

De novo

-

-

Yuen2017 G

HUWE1

AU3763305

chrX:
53644480-53644489

TAAAAAAAAA

TAAAAAAAAAA

intronic

De novo

-

-

Yuen2017 G

HUWE1

G5A3S

chrX:
53565406-53565406

C

T

exonic

Unknown

nonsynonymous SNV

NM_031407

c.G11888A

p.R3963H

17.0

-

Stessman2017 T

HUWE1

03C16777

chrX:
53616538-53616538

C

T

exonic

Paternal

nonsynonymous SNV

NM_031407

c.G4430A

p.R1477H

32.0

Stessman2017 T

HUWE1

B0644

chrX:
53658518-53658518

C

A

splicing

De novo

splicing

18.91

-

Xiong2019 ET

HUWE1

G01-GEA-42-HI

chrX:
53644372-53644372

G

A

exonic

De novo

nonsynonymous SNV

NM_031407

c.C1708T

p.P570S

27.5

-

Satterstrom2020 E

HUWE1

G01-GEA-332_HI

chrX:
53578035-53578035

C

T

exonic

De novo

nonsynonymous SNV

NM_031407

c.G9212A

p.R3071H

19.5

-

Satterstrom2020 E

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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