Variant Results

or

Results for "HEATR5B"

Variant Events: 34

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

HEATR5B

AU2569303

chr2:
37291918-37291918

G

A

exonic

Maternal

stopgain

NM_019024

c.C1549T

p.Q517X

40.0

-

Cirnigliaro2023 G

HEATR5B

mAGRE2171

chr2:
37276812-37276812

G

A

exonic

Paternal

stopgain

NM_019024

c.C2680T

p.Q894X

42.0

-

Cirnigliaro2023 G

HEATR5B

10C116035

chr2:
37299319-37299319

G

A

exonic

De novo

stopgain

NM_019024

c.C703T

p.R235X

33.0

8.24E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

HEATR5B

mAGRE2172

chr2:
37267637-37267637

A

C

exonic

De novo

nonsynonymous SNV

NM_019024

c.T2881G

p.L961V

20.3

-

Cirnigliaro2023 G

HEATR5B

mAGRE1536

chr2:
37259886-37259886

G

A

exonic

Paternal

stopgain

NM_019024

c.C3247T

p.R1083X

43.0

2.481E-5

Cirnigliaro2023 G

HEATR5B

5-0020-003

chr2:
37304940-37304940

C

T

intronic

De novo

-

Trost2022 G

HEATR5B

mAGRE5264

chr2:
37215840-37215840

C

A

exonic

Maternal

stopgain

NM_019024

c.G5860T

p.E1954X

33.0

-

Cirnigliaro2023 G

HEATR5B

MSSNG00021-004

chr2:
37290977-37290977

C

T

intronic

De novo

-

Trost2022 G

HEATR5B

2-0057-004

chr2:
37288999-37288999

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

HEATR5B

13963.p1

chr2:
37234420-37234420

A

G

exonic

De novo

nonsynonymous SNV

NM_019024

c.T4550C

p.I1517T

14.12

6.604E-5

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

HEATR5B

SP0103318

chr2:
37267615-37267615

G

A

exonic

De novo

nonsynonymous SNV

NM_019024

c.C2903T

p.P968L

31.0

2.472E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

HEATR5B

SP0002517

chr2:
37297461-37297461

C

A

exonic

De novo

nonsynonymous SNV

NM_019024

c.G839T

p.R280L

31.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

HEATR5B

SP0100511

chr2:
37277019-37277019

C

A

intronic

De novo

-

Fu2022 E

HEATR5B

1-0382-003

chr2:
37280479-37280479

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

HEATR5B

SSC09584

chr2:
37234420-37234420

A

G

exonic

De novo

nonsynonymous SNV

NM_019024

c.T4550C

p.I1517T

14.12

6.604E-5

Fu2022 E
Trost2022 G

HEATR5B

CC1085.201

chr2:
37234143-37234143

T

C

intronic

De novo

-

6.0E-4

Satterstrom2020 E
Trost2022 G

HEATR5B

AU2140306

chr2:
37239661-37239661

G

A

intronic

De novo

-

Yuen2017 G

HEATR5B

14370.p1

chr2:
37210655-37210655

C

A

intronic

De novo

-

Turner2016 G

HEATR5B

iHART2172

chr2:
37267637-37267637

A

C

exonic

De novo

nonsynonymous SNV

NM_019024

c.T2881G

p.L961V

20.3

-

Ruzzo2019 G

HEATR5B

A26

chr2:
37229156-37229156

A

AA

intronic

De novo

-

Wu2018 G

HEATR5B

iHART1536

chr2:
37259886-37259886

G

A

exonic

Paternal

stopgain

NM_019024

c.C3247T

p.R1083X

43.0

2.481E-5

Ruzzo2019 G

HEATR5B

AU051504

chr2:
37268600-37268600

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HEATR5B

iHART2171

chr2:
37276812-37276812

G

A

exonic

Paternal

stopgain

NM_019024

c.C2680T

p.Q894X

42.0

-

Ruzzo2019 G

HEATR5B

1-0439-003

chr2:
37247247-37247247

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

HEATR5B

REACH000639

chr2:
37230526-37230526

C

T

intronic

De novo

-

Trost2022 G

HEATR5B

2-0323-004

chr2:
37304078-37304078

T

C

exonic

De novo

synonymous SNV

NM_019024

c.A423G

p.L141L

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

HEATR5B

MT_151.4

chr2:
37267931-37267931

G

A

intronic

De novo

-

Trost2022 G

HEATR5B

MSSNG00410-003

chr2:
37266066-37266066

T

A

intronic

De novo

-

Trost2022 G

HEATR5B

3-0621-000A

chr2:
37280610-37280612

CTT

C

intronic

De novo

-

Trost2022 G

HEATR5B

1-0454-003

chr2:
37270065-37270065

T

A

intronic

De novo

-

Trost2022 G

HEATR5B

REACH000323

chr2:
37248543-37248543

G

T

intronic

De novo

-

Trost2022 G

HEATR5B

SP0138692

chr2:
37232749-37232749

G

A

intronic

De novo

-

8.24E-6

Trost2022 G

HEATR5B

3-0305-000

chr2:
37263804-37263804

G

A

intronic

De novo

-

Trost2022 G

HEATR5B

MSSNG00443-003

chr2:
37260511-37260511

T

A

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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