Variant Results

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Results for "HIF1A"

Variant Events: 12

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

HIF1A

1-0346-004

chr14:
62174123-62174123

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HIF1A

Cukier2014:17545

chr14:
62204808-62204808

C

T

exonic

Unknown

nonsynonymous SNV

NM_001243084
NM_001530
NM_181054

c.C1325T
c.C1253T
c.C1253T

p.T442I
p.T418I
p.T418I

15.18

Cukier2014 E

HIF1A

1-0263-003

chr14:
62189117-62189117

T

C

intronic

De novo

-

-

Yuen2016 G

HIF1A

06C59211

chr14:
62193460-62193460

G

A

exonic

De novo

nonsynonymous SNV

NM_001243084
NM_001530
NM_181054

c.G566A
c.G494A
c.G494A

p.R189Q
p.R165Q
p.R165Q

35.0

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HIF1A

AU3997301

chr14:
62196032-62196032

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HIF1A

1-0738-003

chr14:
62196172-62196172

T

A

intronic

De novo

-

-

Trost2022 G

HIF1A

MT_34.3

chr14:
62186428-62186428

T

C

intronic

De novo

-

-

Trost2022 G

HIF1A

SP0038953

chr14:
62201003-62201007

GGTAA

G

splicing

splicing

-

Antaki2022 GE

HIF1A

1-0263-003B

chr14:
62189117-62189117

T

C

intronic

De novo

-

-

Trost2022 G

HIF1A

REACH000639

chr14:
62176262-62176262

G

T

intronic

De novo

-

-

Trost2022 G

HIF1A

SP0073640

chr14:
62207590-62207590

G

A

exonic

De novo

nonsynonymous SNV

NM_001243084
NM_001530
NM_181054

c.G1849A
c.G1777A
c.G1777A

p.A617T
p.A593T
p.A593T

7.414

Fu2022 E
Trost2022 G
Zhou2022 GE

HIF1A

MSSNG00422-003

chr14:
62182828-62182828

A

G

intronic

De novo

-

-

Trost2022 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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