Variant Results

or

or

Results for "HEATR4"

Variant Events: 18

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

HEATR4

iHART1921

chr14:
73989290-73989292

TTC

T

exonic

Paternal

frameshift deletion

NM_203309
NM_001220484

c.565_566del
c.565_566del

p.E189fs
p.E189fs

-

Ruzzo2019 G

HEATR4

2-0318-003

chr14:
73973662-73973662

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HEATR4

iHART1768

chr14:
73980858-73980866

TCTCACCCA

T

exonic

Maternal

frameshift deletion

NM_203309
NM_001220484

c.1283_1290del
c.1283_1290del

p.V428fs
p.V428fs

-

-

Ruzzo2019 G

HEATR4

mAGRE2768

chr14:
73989372-73989373

CG

C

exonic

Paternal

frameshift deletion

NM_203309
NM_001220484

c.484delC
c.484delC

p.R162fs
p.R162fs

-

Cirnigliaro2023 G

HEATR4

1-0059-003

chr14:
73956071-73956071

G

T

intronic

De novo

-

-

Yuen2017 G

HEATR4

mAGRE2219

chr14:
73989372-73989373

CG

C

exonic

Maternal

frameshift deletion

NM_203309
NM_001220484

c.484delC
c.484delC

p.R162fs
p.R162fs

-

Cirnigliaro2023 G

HEATR4

mAGRE1921

chr14:
73989290-73989292

TTC

T

exonic

Paternal

frameshift deletion

NM_203309
NM_001220484

c.565_566del
c.565_566del

p.E189fs
p.E189fs

-

Cirnigliaro2023 G

HEATR4

AU4067303

chr14:
73989211-73989211

G

A

exonic

Paternal

stopgain

NM_203309
NM_001220484

c.C646T
c.C646T

p.R216X
p.R216X

25.6

Cirnigliaro2023 G

HEATR4

AU4473301

chr14:
73977312-73977312

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

HEATR4

AU4067301

chr14:
73989211-73989211

G

A

exonic

Paternal

stopgain

NM_203309
NM_001220484

c.C646T
c.C646T

p.R216X
p.R216X

25.6

Cirnigliaro2023 G

HEATR4

mAGRE1768

chr14:
73980858-73980866

TCTCACCCA

T

exonic

Maternal

frameshift deletion

NM_203309
NM_001220484

c.1283_1290del
c.1283_1290del

p.V428fs
p.V428fs

-

-

Cirnigliaro2023 G

HEATR4

SP0139142

chr14:
73978668-73978668

T

G

intronic

De novo

-

-

Fu2022 E

HEATR4

SP0225696

chr14:
73989690-73989690

C

G

exonic

De novo

nonsynonymous SNV

NM_203309
NM_001220484

c.G167C
c.G167C

p.R56P
p.R56P

8.935

-

Trost2022 G

HEATR4

SP0105081

chr14:
73978668-73978668

T

G

intronic

De novo

-

-

Fu2022 E

HEATR4

REACH000001

chr14:
73953086-73953086

T

C

intronic

De novo

-

-

Trost2022 G

HEATR4

1-0059-003A

chr14:
73956071-73956071

G

T

intronic

De novo

-

-

Trost2022 G

HEATR4

AU3730301

chr14:
74018509-74018509

G

A

intronic

De novo

-

-

Yuen2017 G

HEATR4

Wang2023:847

chr14:
73945322-73945322

C

A

exonic

De novo

nonsynonymous SNV

NM_203309
NM_001220484

c.G3070T
c.G3070T

p.A1024S
p.A1024S

0.426

-

Wang2023 E

Source Variant Information

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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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