Variant Results

or

Results for "HIF3A"

Variant Events: 17

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

HIF3A

13700_p1

chr19:
46808554-46808554

G

A

exonic

De novo

synonymous SNV

NM_152794
NM_152795

c.G264A
c.G270A

p.L88L
p.L90L

-

Fu2022 E

HIF3A

1-1134-003

chr19:
46822234-46822234

C

T

intronic

De novo

-

Trost2022 G

HIF3A

mAGRE5337

chr19:
46808613-46808613

C

A

exonic

Paternal

stopgain

NM_152794
NM_152795

c.C323A
c.C329A

p.S108X
p.S110X

37.0

-

Cirnigliaro2023 G

HIF3A

SP0106215

chr19:
46801621-46801621

C

G

intronic

De novo

-

Trost2022 G

HIF3A

SP0023891

chr19:
46838126-46838126

G

T

intronic

De novo

-

Fu2022 E

HIF3A

111311

chr19:
46815443-46815443

C

T

exonic

nonsynonymous SNV

NM_022462
NM_152796
NM_152794
NM_152795

c.C589T
c.C589T
c.C790T
c.C796T

p.P197S
p.P197S
p.P264S
p.P266S

24.1

6.595E-5

Woodbury-Smith2022 E

HIF3A

2-0725-003

chr19:
46835528-46835528

C

T

intronic

De novo

-

Trost2022 G

HIF3A

7-0258-004

chr19:
46828238-46828238

T

A

intronic

De novo

-

Trost2022 G

HIF3A

AU3861303

chr19:
46823698-46823698

A

C

splicing

Paternal

splicing

12.94

-

Cirnigliaro2023 G

HIF3A

80001100723

chr19:
46811955-46811955

C

A

exonic

De novo

synonymous SNV

NM_022462
NM_152796
NM_152794
NM_152795

c.C277A
c.C277A
c.C478A
c.C484A

p.R93R
p.R93R
p.R160R
p.R162R

7.285

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HIF3A

3980_16mr

chr19:
46825125-46825125

G

A

exonic

De novo

nonsynonymous SNV

NM_022462
NM_152796
NM_152794
NM_152795

c.G1030A
c.G1030A
c.G1231A
c.G1237A

p.D344N
p.D344N
p.D411N
p.D413N

18.61

-

Fu2022 E

HIF3A

SP0070104

chr19:
46842895-46842895

C

A

UTR3

De novo

-

Fu2022 E

HIF3A

2-0285-003

chr19:
46824908-46824908

T

TC

intronic

De novo

-

Trost2022 G

HIF3A

AU3861301

chr19:
46823698-46823698

A

C

splicing

Paternal

splicing

12.94

-

Cirnigliaro2023 G

HIF3A

13700.p1

chr19:
46808554-46808554

G

A

exonic

De novo

synonymous SNV

NM_152794
NM_152795

c.G264A
c.G270A

p.L88L
p.L90L

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HIF3A

MSSNG00441-003

chr19:
46824615-46824615

C

T

intronic

De novo

-

Trost2022 G

HIF3A

mAGRE5339

chr19:
46808613-46808613

C

A

exonic

Paternal

stopgain

NM_152794
NM_152795

c.C323A
c.C329A

p.S108X
p.S110X

37.0

-

Cirnigliaro2023 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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